Canonical Allele Identifier: CA370429431

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918942C>G (hg19) ; chr8:g.18061433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061433C>G , CM000670.2:g.18061433C>G	GRCh38
NC_000008.10:g.17918942C>G , CM000670.1:g.17918942C>G	GRCh37
NC_000008.9:g.17963222C>G	NCBI36
NG_008985.1:g.28566G>C
NG_008985.2:g.28566G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.777G>C	ENSP00000371152.4:p.Lys259Asn
ENST00000517409.2:n.697G>C
ENST00000518746.2:n.2415G>C
ENST00000519545.6:n.746G>C
ENST00000520781.6:c.654G>C	ENSP00000427751.1:p.Lys218Asn
ENST00000521542.2:n.37G>C
ENST00000635756.1:c.142G>C
ENST00000635944.1:c.*565G>C	ENSP00000490195.1:n.*565G>C
ENST00000635998.1:c.729G>C	ENSP00000490506.1:p.Lys243Asn
ENST00000636009.1:c.586G>C	ENSP00000489988.1:n.586G>C
ENST00000636033.1:c.*565G>C	ENSP00000489617.1:n.*565G>C
ENST00000636050.1:c.*572G>C	ENSP00000490562.1:n.*572G>C
ENST00000636128.1:c.408G>C	ENSP00000489789.1:p.Lys136Asn
ENST00000636160.1:c.*621G>C	ENSP00000489651.1:n.*621G>C
ENST00000636171.1:c.672G>C	ENSP00000489761.1:p.Lys224Asn
ENST00000636455.1:c.777G>C	ENSP00000490502.1:p.Lys259Asn
ENST00000636494.1:c.*509G>C	ENSP00000490388.1:n.*509G>C
ENST00000636563.1:n.391G>C
ENST00000636577.1:c.669G>C	ENSP00000490027.1:p.Lys223Asn
ENST00000636691.1:c.534G>C	ENSP00000490725.1:p.Lys178Asn
ENST00000636701.1:c.*380G>C	ENSP00000489800.1:n.*380G>C
ENST00000636815.1:c.646G>C
ENST00000636920.1:c.*565G>C	ENSP00000490437.1:n.*565G>C
ENST00000636997.1:c.642G>C	ENSP00000490093.1:p.Lys214Asn
ENST00000637013.1:c.*1097G>C	ENSP00000490596.1:n.*1097G>C
ENST00000637014.1:n.1136G>C
ENST00000637095.1:c.*509G>C	ENSP00000490415.1:n.*509G>C
ENST00000637244.1:c.*1247G>C	ENSP00000490188.1:n.*1247G>C
ENST00000637343.1:n.2166G>C
ENST00000637429.1:c.*941G>C	ENSP00000490522.1:n.*941G>C
ENST00000637484.1:c.*691G>C	ENSP00000490837.1:n.*691G>C
ENST00000637528.1:c.666G>C	ENSP00000490801.1:p.Lys222Asn
ENST00000637609.1:n.3450G>C
ENST00000637636.1:c.723G>C	ENSP00000490112.1:p.Lys241Asn
ENST00000637790.2:c.729G>C MANE Select	ENSP00000490272.1:p.Lys243Asn
ENST00000637857.1:n.1095G>C
ENST00000637922.1:c.534G>C	ENSP00000490071.1:p.Lys178Asn
ENST00000637991.1:c.702G>C	ENSP00000489901.1:p.Lys234Asn
ENST00000638028.1:n.946G>C
ENST00000638069.1:n.1550G>C
ENST00000262097.10:c.729G>C	ENSP00000262097.6:p.Lys243Asn
ENST00000314146.10:c.711G>C	ENSP00000326970.10:p.Lys237Asn
ENST00000381733.8:c.777G>C	ENSP00000371152.4:p.Lys259Asn
ENST00000518746.1:n.546G>C
ENST00000519468.5:n.558G>C
ENST00000520781.5:c.654G>C	ENSP00000427751.1:p.Lys218Asn
ENST00000521542.1:n.442G>C
NM_001127505.1:c.711G>C	NP_001120977.1:p.Lys237Asn
NM_001127505.2:c.711G>C	NP_001120977.1:p.Lys237Asn
NM_004315.4:c.777G>C	NP_004306.3:p.Lys259Asn
NM_004315.5:c.777G>C	NP_004306.3:p.Lys259Asn
NM_177924.3:c.729G>C	NP_808592.2:p.Lys243Asn
NM_177924.4:c.729G>C	NP_808592.2:p.Lys243Asn
XM_005273504.2:c.663G>C	XP_005273561.1:p.Lys221Asn
NM_001363743.1:c.534G>C	NP_001350672.1:p.Lys178Asn
XM_005273504.3:c.663G>C	XP_005273561.1:p.Lys221Asn
NM_177924.5:c.729G>C MANE Select	NP_808592.2:p.Lys243Asn
NM_001127505.3:c.711G>C	NP_001120977.1:p.Lys237Asn
NM_001363743.2:c.534G>C	NP_001350672.1:p.Lys178Asn
NM_004315.6:c.777G>C	NP_004306.3:p.Lys259Asn