Canonical Allele Identifier: CA370427562

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18059433-C-G
• MyVariant Identifiers: chr8:g.17916942C>G (hg19) ; chr8:g.18059433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059433C>G , CM000670.2:g.18059433C>G	GRCh38
NC_000008.10:g.17916942C>G , CM000670.1:g.17916942C>G	GRCh37
NC_000008.9:g.17961222C>G	NCBI36
NG_008985.1:g.30566G>C
NG_008985.2:g.30566G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.997G>C	ENSP00000371152.4:p.Val333Leu
ENST00000518746.2:n.2635G>C
ENST00000520781.6:c.874G>C	ENSP00000427751.1:p.Val292Leu
ENST00000635756.1:c.362G>C
ENST00000635944.1:c.*785G>C	ENSP00000490195.1:n.*785G>C
ENST00000635998.1:c.949G>C	ENSP00000490506.1:p.Val317Leu
ENST00000636009.1:c.806G>C	ENSP00000489988.1:n.806G>C
ENST00000636033.1:c.*785G>C	ENSP00000489617.1:n.*785G>C
ENST00000636050.1:c.*792G>C	ENSP00000490562.1:n.*792G>C
ENST00000636128.1:c.628G>C	ENSP00000489789.1:p.Val210Leu
ENST00000636160.1:c.*841G>C	ENSP00000489651.1:n.*841G>C
ENST00000636171.1:c.892G>C	ENSP00000489761.1:p.Val298Leu
ENST00000636455.1:c.965+139G>C	ENSP00000490502.1:n.965+139G>C
ENST00000636494.1:c.*729G>C	ENSP00000490388.1:n.*729G>C
ENST00000636563.1:n.611G>C
ENST00000636577.1:c.889G>C	ENSP00000490027.1:p.Val297Leu
ENST00000636691.1:c.754G>C	ENSP00000490725.1:p.Val252Leu
ENST00000636701.1:c.*600G>C	ENSP00000489800.1:n.*600G>C
ENST00000636815.1:c.866G>C
ENST00000636920.1:c.*785G>C	ENSP00000490437.1:n.*785G>C
ENST00000636997.1:c.862G>C	ENSP00000490093.1:p.Val288Leu
ENST00000637013.1:c.*1317G>C	ENSP00000490596.1:n.*1317G>C
ENST00000637014.1:n.1356G>C
ENST00000637095.1:c.*729G>C	ENSP00000490415.1:n.*729G>C
ENST00000637244.1:c.*1467G>C	ENSP00000490188.1:n.*1467G>C
ENST00000637343.1:n.2386G>C
ENST00000637429.1:c.*1161G>C	ENSP00000490522.1:n.*1161G>C
ENST00000637484.1:c.*911G>C	ENSP00000490837.1:n.*911G>C
ENST00000637528.1:c.886G>C	ENSP00000490801.1:p.Val296Leu
ENST00000637609.1:n.3670G>C
ENST00000637636.1:c.943G>C	ENSP00000490112.1:p.Val315Leu
ENST00000637790.2:c.949G>C MANE Select	ENSP00000490272.1:p.Val317Leu
ENST00000637857.1:n.1315G>C
ENST00000637922.1:c.754G>C	ENSP00000490071.1:p.Val252Leu
ENST00000637991.1:c.922G>C	ENSP00000489901.1:p.Val308Leu
ENST00000638028.1:n.1166G>C
ENST00000638069.1:n.1770G>C
ENST00000262097.10:c.949G>C	ENSP00000262097.6:p.Val317Leu
ENST00000314146.10:c.931G>C	ENSP00000326970.10:p.Val311Leu
ENST00000381733.8:c.997G>C	ENSP00000371152.4:p.Val333Leu
ENST00000520781.5:c.874G>C	ENSP00000427751.1:p.Val292Leu
NM_001127505.1:c.931G>C	NP_001120977.1:p.Val311Leu
NM_001127505.2:c.931G>C	NP_001120977.1:p.Val311Leu
NM_004315.4:c.997G>C	NP_004306.3:p.Val333Leu
NM_004315.5:c.997G>C	NP_004306.3:p.Val333Leu
NM_177924.3:c.949G>C	NP_808592.2:p.Val317Leu
NM_177924.4:c.949G>C	NP_808592.2:p.Val317Leu
XM_005273504.2:c.883G>C	XP_005273561.1:p.Val295Leu
NM_001363743.1:c.754G>C	NP_001350672.1:p.Val252Leu
XM_005273504.3:c.883G>C	XP_005273561.1:p.Val295Leu
NM_177924.5:c.949G>C MANE Select	NP_808592.2:p.Val317Leu
NM_001127505.3:c.931G>C	NP_001120977.1:p.Val311Leu
NM_001363743.2:c.754G>C	NP_001350672.1:p.Val252Leu
NM_004315.6:c.997G>C	NP_004306.3:p.Val333Leu