Canonical Allele Identifier: CA4650687

Gene: ASAH1

Linked Data

• dbSNP Id: rs747864508
• ExAC: 8:17918892 C / T
• gnomAD v2: 8-17918892-C-T
• gnomAD v4: 8-18061383-C-T
• MyVariant Identifiers: chr8:g.17918892C>T (hg19) ; chr8:g.18061383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061383C>T , CM000670.2:g.18061383C>T	GRCh38
NC_000008.10:g.17918892C>T , CM000670.1:g.17918892C>T	GRCh37
NC_000008.9:g.17963172C>T	NCBI36
NG_008985.1:g.28616G>A
NG_008985.2:g.28616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.827G>A	ENSP00000371152.4:p.Ser276Asn
ENST00000518746.2:n.2465G>A
ENST00000520781.6:c.704G>A	ENSP00000427751.1:p.Ser235Asn
ENST00000521542.2:n.87G>A
ENST00000635756.1:c.192G>A
ENST00000635944.1:c.*615G>A	ENSP00000490195.1:n.*615G>A
ENST00000635998.1:c.779G>A	ENSP00000490506.1:p.Ser260Asn
ENST00000636009.1:c.636G>A	ENSP00000489988.1:n.636G>A
ENST00000636033.1:c.*615G>A	ENSP00000489617.1:n.*615G>A
ENST00000636050.1:c.*622G>A	ENSP00000490562.1:n.*622G>A
ENST00000636128.1:c.458G>A	ENSP00000489789.1:p.Ser153Asn
ENST00000636160.1:c.*671G>A	ENSP00000489651.1:n.*671G>A
ENST00000636171.1:c.722G>A	ENSP00000489761.1:p.Ser241Asn
ENST00000636455.1:c.827G>A	ENSP00000490502.1:p.Ser276Asn
ENST00000636494.1:c.*559G>A	ENSP00000490388.1:n.*559G>A
ENST00000636563.1:n.441G>A
ENST00000636577.1:c.719G>A	ENSP00000490027.1:p.Ser240Asn
ENST00000636691.1:c.584G>A	ENSP00000490725.1:p.Ser195Asn
ENST00000636701.1:c.*430G>A	ENSP00000489800.1:n.*430G>A
ENST00000636815.1:c.696G>A
ENST00000636920.1:c.*615G>A	ENSP00000490437.1:n.*615G>A
ENST00000636997.1:c.692G>A	ENSP00000490093.1:p.Ser231Asn
ENST00000637013.1:c.*1147G>A	ENSP00000490596.1:n.*1147G>A
ENST00000637014.1:n.1186G>A
ENST00000637095.1:c.*559G>A	ENSP00000490415.1:n.*559G>A
ENST00000637244.1:c.*1297G>A	ENSP00000490188.1:n.*1297G>A
ENST00000637343.1:n.2216G>A
ENST00000637429.1:c.*991G>A	ENSP00000490522.1:n.*991G>A
ENST00000637484.1:c.*741G>A	ENSP00000490837.1:n.*741G>A
ENST00000637528.1:c.716G>A	ENSP00000490801.1:p.Ser239Asn
ENST00000637609.1:n.3500G>A
ENST00000637636.1:c.773G>A	ENSP00000490112.1:p.Ser258Asn
ENST00000637790.2:c.779G>A MANE Select	ENSP00000490272.1:p.Ser260Asn
ENST00000637857.1:n.1145G>A
ENST00000637922.1:c.584G>A	ENSP00000490071.1:p.Ser195Asn
ENST00000637991.1:c.752G>A	ENSP00000489901.1:p.Ser251Asn
ENST00000638028.1:n.996G>A
ENST00000638069.1:n.1600G>A
ENST00000262097.10:c.779G>A	ENSP00000262097.6:p.Ser260Asn
ENST00000314146.10:c.761G>A	ENSP00000326970.10:p.Ser254Asn
ENST00000381733.8:c.827G>A	ENSP00000371152.4:p.Ser276Asn
ENST00000519468.5:n.608G>A
ENST00000520781.5:c.704G>A	ENSP00000427751.1:p.Ser235Asn
ENST00000521542.1:n.492G>A
NM_001127505.1:c.761G>A	NP_001120977.1:p.Ser254Asn
NM_001127505.2:c.761G>A	NP_001120977.1:p.Ser254Asn
NM_004315.4:c.827G>A	NP_004306.3:p.Ser276Asn
NM_004315.5:c.827G>A	NP_004306.3:p.Ser276Asn
NM_177924.3:c.779G>A	NP_808592.2:p.Ser260Asn
NM_177924.4:c.779G>A	NP_808592.2:p.Ser260Asn
XM_005273504.2:c.713G>A	XP_005273561.1:p.Ser238Asn
NM_001363743.1:c.584G>A	NP_001350672.1:p.Ser195Asn
XM_005273504.3:c.713G>A	XP_005273561.1:p.Ser238Asn
NM_177924.5:c.779G>A MANE Select	NP_808592.2:p.Ser260Asn
NM_001127505.3:c.761G>A	NP_001120977.1:p.Ser254Asn
NM_001363743.2:c.584G>A	NP_001350672.1:p.Ser195Asn
NM_004315.6:c.827G>A	NP_004306.3:p.Ser276Asn