Canonical Allele Identifier: CA370429310

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918908T>G (hg19) ; chr8:g.18061399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061399T>G , CM000670.2:g.18061399T>G	GRCh38
NC_000008.10:g.17918908T>G , CM000670.1:g.17918908T>G	GRCh37
NC_000008.9:g.17963188T>G	NCBI36
NG_008985.1:g.28600A>C
NG_008985.2:g.28600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.811A>C	ENSP00000371152.4:p.Thr271Pro
ENST00000517409.2:n.731A>C
ENST00000518746.2:n.2449A>C
ENST00000520781.6:c.688A>C	ENSP00000427751.1:p.Thr230Pro
ENST00000521542.2:n.71A>C
ENST00000635756.1:c.176A>C
ENST00000635944.1:c.*599A>C	ENSP00000490195.1:n.*599A>C
ENST00000635998.1:c.763A>C	ENSP00000490506.1:p.Thr255Pro
ENST00000636009.1:c.620A>C	ENSP00000489988.1:n.620A>C
ENST00000636033.1:c.*599A>C	ENSP00000489617.1:n.*599A>C
ENST00000636050.1:c.*606A>C	ENSP00000490562.1:n.*606A>C
ENST00000636128.1:c.442A>C	ENSP00000489789.1:p.Thr148Pro
ENST00000636160.1:c.*655A>C	ENSP00000489651.1:n.*655A>C
ENST00000636171.1:c.706A>C	ENSP00000489761.1:p.Thr236Pro
ENST00000636455.1:c.811A>C	ENSP00000490502.1:p.Thr271Pro
ENST00000636494.1:c.*543A>C	ENSP00000490388.1:n.*543A>C
ENST00000636563.1:n.425A>C
ENST00000636577.1:c.703A>C	ENSP00000490027.1:p.Thr235Pro
ENST00000636691.1:c.568A>C	ENSP00000490725.1:p.Thr190Pro
ENST00000636701.1:c.*414A>C	ENSP00000489800.1:n.*414A>C
ENST00000636815.1:c.680A>C
ENST00000636920.1:c.*599A>C	ENSP00000490437.1:n.*599A>C
ENST00000636997.1:c.676A>C	ENSP00000490093.1:p.Thr226Pro
ENST00000637013.1:c.*1131A>C	ENSP00000490596.1:n.*1131A>C
ENST00000637014.1:n.1170A>C
ENST00000637095.1:c.*543A>C	ENSP00000490415.1:n.*543A>C
ENST00000637244.1:c.*1281A>C	ENSP00000490188.1:n.*1281A>C
ENST00000637343.1:n.2200A>C
ENST00000637429.1:c.*975A>C	ENSP00000490522.1:n.*975A>C
ENST00000637484.1:c.*725A>C	ENSP00000490837.1:n.*725A>C
ENST00000637528.1:c.700A>C	ENSP00000490801.1:p.Thr234Pro
ENST00000637609.1:n.3484A>C
ENST00000637636.1:c.757A>C	ENSP00000490112.1:p.Thr253Pro
ENST00000637790.2:c.763A>C MANE Select	ENSP00000490272.1:p.Thr255Pro
ENST00000637857.1:n.1129A>C
ENST00000637922.1:c.568A>C	ENSP00000490071.1:p.Thr190Pro
ENST00000637991.1:c.736A>C	ENSP00000489901.1:p.Thr246Pro
ENST00000638028.1:n.980A>C
ENST00000638069.1:n.1584A>C
ENST00000262097.10:c.763A>C	ENSP00000262097.6:p.Thr255Pro
ENST00000314146.10:c.745A>C	ENSP00000326970.10:p.Thr249Pro
ENST00000381733.8:c.811A>C	ENSP00000371152.4:p.Thr271Pro
ENST00000519468.5:n.592A>C
ENST00000520781.5:c.688A>C	ENSP00000427751.1:p.Thr230Pro
ENST00000521542.1:n.476A>C
NM_001127505.1:c.745A>C	NP_001120977.1:p.Thr249Pro
NM_001127505.2:c.745A>C	NP_001120977.1:p.Thr249Pro
NM_004315.4:c.811A>C	NP_004306.3:p.Thr271Pro
NM_004315.5:c.811A>C	NP_004306.3:p.Thr271Pro
NM_177924.3:c.763A>C	NP_808592.2:p.Thr255Pro
NM_177924.4:c.763A>C	NP_808592.2:p.Thr255Pro
XM_005273504.2:c.697A>C	XP_005273561.1:p.Thr233Pro
NM_001363743.1:c.568A>C	NP_001350672.1:p.Thr190Pro
XM_005273504.3:c.697A>C	XP_005273561.1:p.Thr233Pro
NM_177924.5:c.763A>C MANE Select	NP_808592.2:p.Thr255Pro
NM_001127505.3:c.745A>C	NP_001120977.1:p.Thr249Pro
NM_001363743.2:c.568A>C	NP_001350672.1:p.Thr190Pro
NM_004315.6:c.811A>C	NP_004306.3:p.Thr271Pro