Canonical Allele Identifier: CA4650697

Gene: ASAH1

Linked Data

• dbSNP Id: rs764695416
• ExAC: 8:17918952 A / C
• gnomAD v2: 8-17918952-A-C
• gnomAD v4: 8-18061443-A-C
• MyVariant Identifiers: chr8:g.17918952A>C (hg19) ; chr8:g.18061443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061443A>C , CM000670.2:g.18061443A>C	GRCh38
NC_000008.10:g.17918952A>C , CM000670.1:g.17918952A>C	GRCh37
NC_000008.9:g.17963232A>C	NCBI36
NG_008985.1:g.28556T>G
NG_008985.2:g.28556T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.767T>G	ENSP00000371152.4:p.Ile256Ser
ENST00000517409.2:n.687T>G
ENST00000518746.2:n.2405T>G
ENST00000519545.6:n.736T>G
ENST00000520781.6:c.644T>G	ENSP00000427751.1:p.Ile215Ser
ENST00000521542.2:n.27T>G
ENST00000635756.1:c.132T>G
ENST00000635944.1:c.*555T>G	ENSP00000490195.1:n.*555T>G
ENST00000635998.1:c.719T>G	ENSP00000490506.1:p.Ile240Ser
ENST00000636009.1:c.576T>G	ENSP00000489988.1:n.576T>G
ENST00000636033.1:c.*555T>G	ENSP00000489617.1:n.*555T>G
ENST00000636050.1:c.*562T>G	ENSP00000490562.1:n.*562T>G
ENST00000636128.1:c.398T>G	ENSP00000489789.1:p.Ile133Ser
ENST00000636160.1:c.*611T>G	ENSP00000489651.1:n.*611T>G
ENST00000636171.1:c.662T>G	ENSP00000489761.1:p.Ile221Ser
ENST00000636455.1:c.767T>G	ENSP00000490502.1:p.Ile256Ser
ENST00000636494.1:c.*499T>G	ENSP00000490388.1:n.*499T>G
ENST00000636563.1:n.381T>G
ENST00000636577.1:c.659T>G	ENSP00000490027.1:p.Ile220Ser
ENST00000636691.1:c.524T>G	ENSP00000490725.1:p.Ile175Ser
ENST00000636701.1:c.*370T>G	ENSP00000489800.1:n.*370T>G
ENST00000636815.1:c.636T>G
ENST00000636920.1:c.*555T>G	ENSP00000490437.1:n.*555T>G
ENST00000636997.1:c.632T>G	ENSP00000490093.1:p.Ile211Ser
ENST00000637013.1:c.*1087T>G	ENSP00000490596.1:n.*1087T>G
ENST00000637014.1:n.1126T>G
ENST00000637095.1:c.*499T>G	ENSP00000490415.1:n.*499T>G
ENST00000637244.1:c.*1237T>G	ENSP00000490188.1:n.*1237T>G
ENST00000637343.1:n.2156T>G
ENST00000637429.1:c.*931T>G	ENSP00000490522.1:n.*931T>G
ENST00000637484.1:c.*681T>G	ENSP00000490837.1:n.*681T>G
ENST00000637528.1:c.656T>G	ENSP00000490801.1:p.Ile219Ser
ENST00000637609.1:n.3440T>G
ENST00000637636.1:c.713T>G	ENSP00000490112.1:p.Ile238Ser
ENST00000637790.2:c.719T>G MANE Select	ENSP00000490272.1:p.Ile240Ser
ENST00000637857.1:n.1085T>G
ENST00000637922.1:c.524T>G	ENSP00000490071.1:p.Ile175Ser
ENST00000637991.1:c.692T>G	ENSP00000489901.1:p.Ile231Ser
ENST00000638028.1:n.936T>G
ENST00000638069.1:n.1540T>G
ENST00000262097.10:c.719T>G	ENSP00000262097.6:p.Ile240Ser
ENST00000314146.10:c.701T>G	ENSP00000326970.10:p.Ile234Ser
ENST00000381733.8:c.767T>G	ENSP00000371152.4:p.Ile256Ser
ENST00000518746.1:n.536T>G
ENST00000519468.5:n.548T>G
ENST00000520781.5:c.644T>G	ENSP00000427751.1:p.Ile215Ser
ENST00000521542.1:n.432T>G
NM_001127505.1:c.701T>G	NP_001120977.1:p.Ile234Ser
NM_001127505.2:c.701T>G	NP_001120977.1:p.Ile234Ser
NM_004315.4:c.767T>G	NP_004306.3:p.Ile256Ser
NM_004315.5:c.767T>G	NP_004306.3:p.Ile256Ser
NM_177924.3:c.719T>G	NP_808592.2:p.Ile240Ser
NM_177924.4:c.719T>G	NP_808592.2:p.Ile240Ser
XM_005273504.2:c.653T>G	XP_005273561.1:p.Ile218Ser
NM_001363743.1:c.524T>G	NP_001350672.1:p.Ile175Ser
XM_005273504.3:c.653T>G	XP_005273561.1:p.Ile218Ser
NM_177924.5:c.719T>G MANE Select	NP_808592.2:p.Ile240Ser
NM_001127505.3:c.701T>G	NP_001120977.1:p.Ile234Ser
NM_001363743.2:c.524T>G	NP_001350672.1:p.Ile175Ser
NM_004315.6:c.767T>G	NP_004306.3:p.Ile256Ser