Canonical Allele Identifier: CA4650794

Gene: ASAH1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18062427T>C , CM000670.2:g.18062427T>C	GRCh38
NC_000008.10:g.17919936T>C , CM000670.1:g.17919936T>C	GRCh37
NC_000008.9:g.17964216T>C	NCBI36
NG_008985.1:g.27572A>G
NG_008985.2:g.27572A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.552-4A>G	ENSP00000371152.4:n.552-4A>G
ENST00000517409.2:n.441-4A>G
ENST00000518746.2:n.1421A>G
ENST00000519545.6:n.521-4A>G
ENST00000520781.6:c.429-4A>G	ENSP00000427751.1:n.429-4A>G
ENST00000523593.6:c.*347-4A>G	ENSP00000490700.1:n.*347-4A>G
ENST00000635769.1:c.525-4A>G	ENSP00000490485.1:n.525-4A>G
ENST00000635944.1:c.*340-4A>G	ENSP00000490195.1:n.*340-4A>G
ENST00000635998.1:c.504-4A>G	ENSP00000490506.1:n.504-4A>G
ENST00000636009.1:c.361-4A>G	ENSP00000489988.1:n.361-4A>G
ENST00000636033.1:c.*340-4A>G	ENSP00000489617.1:n.*340-4A>G
ENST00000636050.1:c.*347-4A>G	ENSP00000490562.1:n.*347-4A>G
ENST00000636128.1:c.383-969A>G	ENSP00000489789.1:n.383-969A>G
ENST00000636160.1:c.*396-4A>G	ENSP00000489651.1:n.*396-4A>G
ENST00000636171.1:c.447-4A>G	ENSP00000489761.1:n.447-4A>G
ENST00000636299.1:c.*275-4A>G	ENSP00000490202.1:n.*275-4A>G
ENST00000636455.1:c.552-4A>G	ENSP00000490502.1:n.552-4A>G
ENST00000636494.1:c.*284-4A>G	ENSP00000490388.1:n.*284-4A>G
ENST00000636563.1:n.166-4A>G
ENST00000636577.1:c.444-4A>G	ENSP00000490027.1:n.444-4A>G
ENST00000636691.1:c.309-4A>G	ENSP00000490725.1:n.309-4A>G
ENST00000636701.1:c.*155-4A>G	ENSP00000489800.1:n.*155-4A>G
ENST00000636719.1:n.294A>G
ENST00000636815.1:c.421-4A>G
ENST00000636823.1:c.309-4A>G	ENSP00000490798.1:n.309-4A>G
ENST00000636920.1:c.*340-4A>G	ENSP00000490437.1:n.*340-4A>G
ENST00000636997.1:c.417-4A>G	ENSP00000490093.1:n.417-4A>G
ENST00000637013.1:c.*872-4A>G	ENSP00000490596.1:n.*872-4A>G
ENST00000637014.1:n.369A>G
ENST00000637095.1:c.*284-4A>G	ENSP00000490415.1:n.*284-4A>G
ENST00000637244.1:c.*1022-4A>G	ENSP00000490188.1:n.*1022-4A>G
ENST00000637343.1:n.1941-4A>G
ENST00000637429.1:c.*716-4A>G	ENSP00000490522.1:n.*716-4A>G
ENST00000637484.1:c.*466-4A>G	ENSP00000490837.1:n.*466-4A>G
ENST00000637528.1:c.441-4A>G	ENSP00000490801.1:n.441-4A>G
ENST00000637603.1:c.474-4A>G	ENSP00000489979.1:n.474-4A>G
ENST00000637609.1:n.3225-4A>G
ENST00000637636.1:c.498-4A>G	ENSP00000490112.1:n.498-4A>G
ENST00000637718.1:c.309-4A>G	ENSP00000490133.1:n.309-4A>G
ENST00000637790.2:c.504-4A>G MANE Select	ENSP00000490272.1:n.504-4A>G
ENST00000637857.1:n.105-4A>G
ENST00000637922.1:c.309-4A>G	ENSP00000490071.1:n.309-4A>G
ENST00000637991.1:c.477-4A>G	ENSP00000489901.1:n.477-4A>G
ENST00000638028.1:n.717A>G
ENST00000638069.1:n.560-4A>G
ENST00000262097.10:c.504-4A>G	ENSP00000262097.6:n.504-4A>G
ENST00000314146.10:c.486-4A>G	ENSP00000326970.10:n.486-4A>G
ENST00000381733.8:c.552-4A>G	ENSP00000371152.4:n.552-4A>G
ENST00000517409.1:n.441-4A>G
ENST00000519468.5:n.389-60A>G
ENST00000519545.5:n.518-4A>G
ENST00000520781.5:c.429-4A>G	ENSP00000427751.1:n.429-4A>G
ENST00000523593.5:n.357-4A>G
NM_001127505.1:c.486-4A>G	NP_001120977.1:n.486-4A>G
NM_001127505.2:c.486-4A>G	NP_001120977.1:n.486-4A>G
NM_004315.4:c.552-4A>G	NP_004306.3:n.552-4A>G
NM_004315.5:c.552-4A>G	NP_004306.3:n.552-4A>G
NM_177924.3:c.504-4A>G	NP_808592.2:n.504-4A>G
NM_177924.4:c.504-4A>G	NP_808592.2:n.504-4A>G
XM_005273504.2:c.438-4A>G	XP_005273561.1:n.438-4A>G
NM_001363743.1:c.309-4A>G	NP_001350672.1:n.309-4A>G
XM_005273504.3:c.438-4A>G	XP_005273561.1:n.438-4A>G
NM_177924.5:c.504-4A>G MANE Select	NP_808592.2:n.504-4A>G
NM_001127505.3:c.486-4A>G	NP_001120977.1:n.486-4A>G
NM_001363743.2:c.309-4A>G	NP_001350672.1:n.309-4A>G
NM_004315.6:c.552-4A>G	NP_004306.3:n.552-4A>G