Canonical Allele Identifier: CA4650689

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 2143777
• ClinVar RCV Id: RCV003068058
• dbSNP Id: rs377336041
• ExAC: 8:17918906 T / C
• gnomAD v2: 8-17918906-T-C
• gnomAD v4: 8-18061397-T-C
• MyVariant Identifiers: chr8:g.17918906T>C (hg19) ; chr8:g.18061397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061397T>C , CM000670.2:g.18061397T>C	GRCh38
NC_000008.10:g.17918906T>C , CM000670.1:g.17918906T>C	GRCh37
NC_000008.9:g.17963186T>C	NCBI36
NG_008985.1:g.28602A>G
NG_008985.2:g.28602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.813A>G	ENSP00000371152.4:p.Thr271=
ENST00000517409.2:n.733A>G
ENST00000518746.2:n.2451A>G
ENST00000520781.6:c.690A>G	ENSP00000427751.1:p.Thr230=
ENST00000521542.2:n.73A>G
ENST00000635756.1:c.178A>G
ENST00000635944.1:c.*601A>G	ENSP00000490195.1:n.*601A>G
ENST00000635998.1:c.765A>G	ENSP00000490506.1:p.Thr255=
ENST00000636009.1:c.622A>G	ENSP00000489988.1:n.622A>G
ENST00000636033.1:c.*601A>G	ENSP00000489617.1:n.*601A>G
ENST00000636050.1:c.*608A>G	ENSP00000490562.1:n.*608A>G
ENST00000636128.1:c.444A>G	ENSP00000489789.1:p.Thr148=
ENST00000636160.1:c.*657A>G	ENSP00000489651.1:n.*657A>G
ENST00000636171.1:c.708A>G	ENSP00000489761.1:p.Thr236=
ENST00000636455.1:c.813A>G	ENSP00000490502.1:p.Thr271=
ENST00000636494.1:c.*545A>G	ENSP00000490388.1:n.*545A>G
ENST00000636563.1:n.427A>G
ENST00000636577.1:c.705A>G	ENSP00000490027.1:p.Thr235=
ENST00000636691.1:c.570A>G	ENSP00000490725.1:p.Thr190=
ENST00000636701.1:c.*416A>G	ENSP00000489800.1:n.*416A>G
ENST00000636815.1:c.682A>G
ENST00000636920.1:c.*601A>G	ENSP00000490437.1:n.*601A>G
ENST00000636997.1:c.678A>G	ENSP00000490093.1:p.Thr226=
ENST00000637013.1:c.*1133A>G	ENSP00000490596.1:n.*1133A>G
ENST00000637014.1:n.1172A>G
ENST00000637095.1:c.*545A>G	ENSP00000490415.1:n.*545A>G
ENST00000637244.1:c.*1283A>G	ENSP00000490188.1:n.*1283A>G
ENST00000637343.1:n.2202A>G
ENST00000637429.1:c.*977A>G	ENSP00000490522.1:n.*977A>G
ENST00000637484.1:c.*727A>G	ENSP00000490837.1:n.*727A>G
ENST00000637528.1:c.702A>G	ENSP00000490801.1:p.Thr234=
ENST00000637609.1:n.3486A>G
ENST00000637636.1:c.759A>G	ENSP00000490112.1:p.Thr253=
ENST00000637790.2:c.765A>G MANE Select	ENSP00000490272.1:p.Thr255=
ENST00000637857.1:n.1131A>G
ENST00000637922.1:c.570A>G	ENSP00000490071.1:p.Thr190=
ENST00000637991.1:c.738A>G	ENSP00000489901.1:p.Thr246=
ENST00000638028.1:n.982A>G
ENST00000638069.1:n.1586A>G
ENST00000262097.10:c.765A>G	ENSP00000262097.6:p.Thr255=
ENST00000314146.10:c.747A>G	ENSP00000326970.10:p.Thr249=
ENST00000381733.8:c.813A>G	ENSP00000371152.4:p.Thr271=
ENST00000519468.5:n.594A>G
ENST00000520781.5:c.690A>G	ENSP00000427751.1:p.Thr230=
ENST00000521542.1:n.478A>G
NM_001127505.1:c.747A>G	NP_001120977.1:p.Thr249=
NM_001127505.2:c.747A>G	NP_001120977.1:p.Thr249=
NM_004315.4:c.813A>G	NP_004306.3:p.Thr271=
NM_004315.5:c.813A>G	NP_004306.3:p.Thr271=
NM_177924.3:c.765A>G	NP_808592.2:p.Thr255=
NM_177924.4:c.765A>G	NP_808592.2:p.Thr255=
XM_005273504.2:c.699A>G	XP_005273561.1:p.Thr233=
NM_001363743.1:c.570A>G	NP_001350672.1:p.Thr190=
XM_005273504.3:c.699A>G	XP_005273561.1:p.Thr233=
NM_177924.5:c.765A>G MANE Select	NP_808592.2:p.Thr255=
NM_001127505.3:c.747A>G	NP_001120977.1:p.Thr249=
NM_001363743.2:c.570A>G	NP_001350672.1:p.Thr190=
NM_004315.6:c.813A>G	NP_004306.3:p.Thr271=