Canonical Allele Identifier: CA370431690

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18064499-A-C
• MyVariant Identifiers: chr8:g.17922008A>C (hg19) ; chr8:g.18064499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064499A>C , CM000670.2:g.18064499A>C	GRCh38
NC_000008.10:g.17922008A>C , CM000670.1:g.17922008A>C	GRCh37
NC_000008.9:g.17966288A>C	NCBI36
NG_008985.1:g.25500T>G
NG_008985.2:g.25500T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.463T>G	ENSP00000371152.4:p.Leu155Val
ENST00000519545.6:n.432T>G
ENST00000520781.6:c.383-1269T>G	ENSP00000427751.1:n.383-1269T>G
ENST00000523593.6:c.*258T>G	ENSP00000490700.1:n.*258T>G
ENST00000523744.2:n.4173T>G
ENST00000635769.1:c.436T>G	ENSP00000490485.1:p.Leu146Val
ENST00000635944.1:c.*251T>G	ENSP00000490195.1:n.*251T>G
ENST00000635998.1:c.415T>G	ENSP00000490506.1:p.Leu139Val
ENST00000636009.1:c.315-1269T>G	ENSP00000489988.1:n.315-1269T>G
ENST00000636033.1:c.*251T>G	ENSP00000489617.1:n.*251T>G
ENST00000636050.1:c.*258T>G	ENSP00000490562.1:n.*258T>G
ENST00000636128.1:c.382+2721T>G	ENSP00000489789.1:n.382+2721T>G
ENST00000636160.1:c.*307T>G	ENSP00000489651.1:n.*307T>G
ENST00000636171.1:c.383-25T>G	ENSP00000489761.1:n.383-25T>G
ENST00000636299.1:c.*186T>G	ENSP00000490202.1:n.*186T>G
ENST00000636435.1:n.3187T>G
ENST00000636455.1:c.463T>G	ENSP00000490502.1:p.Leu155Val
ENST00000636494.1:c.*195T>G	ENSP00000490388.1:n.*195T>G
ENST00000636563.1:n.77T>G
ENST00000636577.1:c.383-28T>G	ENSP00000490027.1:n.383-28T>G
ENST00000636691.1:c.220T>G	ENSP00000490725.1:p.Leu74Val
ENST00000636701.1:c.*66T>G	ENSP00000489800.1:n.*66T>G
ENST00000636815.1:c.332T>G
ENST00000636823.1:c.220T>G	ENSP00000490798.1:p.Leu74Val
ENST00000636828.1:n.3279T>G
ENST00000636920.1:c.*251T>G	ENSP00000490437.1:n.*251T>G
ENST00000636997.1:c.328T>G	ENSP00000490093.1:p.Leu110Val
ENST00000637013.1:c.*627T>G	ENSP00000490596.1:n.*627T>G
ENST00000637095.1:c.*195T>G	ENSP00000490415.1:n.*195T>G
ENST00000637244.1:c.*933T>G	ENSP00000490188.1:n.*933T>G
ENST00000637343.1:n.626T>G
ENST00000637429.1:c.*627T>G	ENSP00000490522.1:n.*627T>G
ENST00000637484.1:c.*420-1269T>G	ENSP00000490837.1:n.*420-1269T>G
ENST00000637528.1:c.383-31T>G	ENSP00000490801.1:n.383-31T>G
ENST00000637603.1:c.385T>G	ENSP00000489979.1:p.Leu129Val
ENST00000637609.1:n.3136T>G
ENST00000637636.1:c.409T>G	ENSP00000490112.1:p.Leu137Val
ENST00000637638.1:c.415T>G	ENSP00000490774.1:p.Leu139Val
ENST00000637718.1:c.220T>G	ENSP00000490133.1:p.Leu74Val
ENST00000637790.2:c.415T>G MANE Select	ENSP00000490272.1:p.Leu139Val
ENST00000637857.1:n.105-2076T>G
ENST00000637922.1:c.220T>G	ENSP00000490071.1:p.Leu74Val
ENST00000637991.1:c.431-1269T>G	ENSP00000489901.1:n.431-1269T>G
ENST00000638069.1:n.471T>G
ENST00000262097.10:c.415T>G	ENSP00000262097.6:p.Leu139Val
ENST00000314146.10:c.397T>G	ENSP00000326970.10:p.Leu133Val
ENST00000381733.8:c.463T>G	ENSP00000371152.4:p.Leu155Val
ENST00000519468.5:n.389-2132T>G
ENST00000519545.5:n.429T>G
ENST00000520781.5:c.383-1269T>G	ENSP00000427751.1:n.383-1269T>G
ENST00000523593.5:n.268T>G
ENST00000523744.1:n.418T>G
NM_001127505.1:c.397T>G	NP_001120977.1:p.Leu133Val
NM_001127505.2:c.397T>G	NP_001120977.1:p.Leu133Val
NM_004315.4:c.463T>G	NP_004306.3:p.Leu155Val
NM_004315.5:c.463T>G	NP_004306.3:p.Leu155Val
NM_177924.3:c.415T>G	NP_808592.2:p.Leu139Val
NM_177924.4:c.415T>G	NP_808592.2:p.Leu139Val
XM_005273504.2:c.349T>G	XP_005273561.1:p.Leu117Val
NM_001363743.1:c.220T>G	NP_001350672.1:p.Leu74Val
XM_005273504.3:c.349T>G	XP_005273561.1:p.Leu117Val
NM_177924.5:c.415T>G MANE Select	NP_808592.2:p.Leu139Val
NM_001127505.3:c.397T>G	NP_001120977.1:p.Leu133Val
NM_001363743.2:c.220T>G	NP_001350672.1:p.Leu74Val
NM_004315.6:c.463T>G	NP_004306.3:p.Leu155Val