Canonical Allele Identifier: CA370429265

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918895T>G (hg19) ; chr8:g.18061386T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061386T>G , CM000670.2:g.18061386T>G	GRCh38
NC_000008.10:g.17918895T>G , CM000670.1:g.17918895T>G	GRCh37
NC_000008.9:g.17963175T>G	NCBI36
NG_008985.1:g.28613A>C
NG_008985.2:g.28613A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.824A>C	ENSP00000371152.4:p.Asn275Thr
ENST00000518746.2:n.2462A>C
ENST00000520781.6:c.701A>C	ENSP00000427751.1:p.Asn234Thr
ENST00000521542.2:n.84A>C
ENST00000635756.1:c.189A>C
ENST00000635944.1:c.*612A>C	ENSP00000490195.1:n.*612A>C
ENST00000635998.1:c.776A>C	ENSP00000490506.1:p.Asn259Thr
ENST00000636009.1:c.633A>C	ENSP00000489988.1:n.633A>C
ENST00000636033.1:c.*612A>C	ENSP00000489617.1:n.*612A>C
ENST00000636050.1:c.*619A>C	ENSP00000490562.1:n.*619A>C
ENST00000636128.1:c.455A>C	ENSP00000489789.1:p.Asn152Thr
ENST00000636160.1:c.*668A>C	ENSP00000489651.1:n.*668A>C
ENST00000636171.1:c.719A>C	ENSP00000489761.1:p.Asn240Thr
ENST00000636455.1:c.824A>C	ENSP00000490502.1:p.Asn275Thr
ENST00000636494.1:c.*556A>C	ENSP00000490388.1:n.*556A>C
ENST00000636563.1:n.438A>C
ENST00000636577.1:c.716A>C	ENSP00000490027.1:p.Asn239Thr
ENST00000636691.1:c.581A>C	ENSP00000490725.1:p.Asn194Thr
ENST00000636701.1:c.*427A>C	ENSP00000489800.1:n.*427A>C
ENST00000636815.1:c.693A>C
ENST00000636920.1:c.*612A>C	ENSP00000490437.1:n.*612A>C
ENST00000636997.1:c.689A>C	ENSP00000490093.1:p.Asn230Thr
ENST00000637013.1:c.*1144A>C	ENSP00000490596.1:n.*1144A>C
ENST00000637014.1:n.1183A>C
ENST00000637095.1:c.*556A>C	ENSP00000490415.1:n.*556A>C
ENST00000637244.1:c.*1294A>C	ENSP00000490188.1:n.*1294A>C
ENST00000637343.1:n.2213A>C
ENST00000637429.1:c.*988A>C	ENSP00000490522.1:n.*988A>C
ENST00000637484.1:c.*738A>C	ENSP00000490837.1:n.*738A>C
ENST00000637528.1:c.713A>C	ENSP00000490801.1:p.Asn238Thr
ENST00000637609.1:n.3497A>C
ENST00000637636.1:c.770A>C	ENSP00000490112.1:p.Asn257Thr
ENST00000637790.2:c.776A>C MANE Select	ENSP00000490272.1:p.Asn259Thr
ENST00000637857.1:n.1142A>C
ENST00000637922.1:c.581A>C	ENSP00000490071.1:p.Asn194Thr
ENST00000637991.1:c.749A>C	ENSP00000489901.1:p.Asn250Thr
ENST00000638028.1:n.993A>C
ENST00000638069.1:n.1597A>C
ENST00000262097.10:c.776A>C	ENSP00000262097.6:p.Asn259Thr
ENST00000314146.10:c.758A>C	ENSP00000326970.10:p.Asn253Thr
ENST00000381733.8:c.824A>C	ENSP00000371152.4:p.Asn275Thr
ENST00000519468.5:n.605A>C
ENST00000520781.5:c.701A>C	ENSP00000427751.1:p.Asn234Thr
ENST00000521542.1:n.489A>C
NM_001127505.1:c.758A>C	NP_001120977.1:p.Asn253Thr
NM_001127505.2:c.758A>C	NP_001120977.1:p.Asn253Thr
NM_004315.4:c.824A>C	NP_004306.3:p.Asn275Thr
NM_004315.5:c.824A>C	NP_004306.3:p.Asn275Thr
NM_177924.3:c.776A>C	NP_808592.2:p.Asn259Thr
NM_177924.4:c.776A>C	NP_808592.2:p.Asn259Thr
XM_005273504.2:c.710A>C	XP_005273561.1:p.Asn237Thr
NM_001363743.1:c.581A>C	NP_001350672.1:p.Asn194Thr
XM_005273504.3:c.710A>C	XP_005273561.1:p.Asn237Thr
NM_177924.5:c.776A>C MANE Select	NP_808592.2:p.Asn259Thr
NM_001127505.3:c.758A>C	NP_001120977.1:p.Asn253Thr
NM_001363743.2:c.581A>C	NP_001350672.1:p.Asn194Thr
NM_004315.6:c.824A>C	NP_004306.3:p.Asn275Thr