Canonical Allele Identifier: CA370429247

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1435570
• ClinVar RCV Id: RCV001984944
• dbSNP Id: rs1392247895
• gnomAD v2: 8-17918890-T-G
• gnomAD v4: 8-18061381-T-G
• MyVariant Identifiers: chr8:g.17918890T>G (hg19) ; chr8:g.18061381T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061381T>G , CM000670.2:g.18061381T>G	GRCh38
NC_000008.10:g.17918890T>G , CM000670.1:g.17918890T>G	GRCh37
NC_000008.9:g.17963170T>G	NCBI36
NG_008985.1:g.28618A>C
NG_008985.2:g.28618A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.829A>C	ENSP00000371152.4:p.Thr277Pro
ENST00000518746.2:n.2467A>C
ENST00000520781.6:c.706A>C	ENSP00000427751.1:p.Thr236Pro
ENST00000521542.2:n.89A>C
ENST00000635756.1:c.194A>C
ENST00000635944.1:c.*617A>C	ENSP00000490195.1:n.*617A>C
ENST00000635998.1:c.781A>C	ENSP00000490506.1:p.Thr261Pro
ENST00000636009.1:c.638A>C	ENSP00000489988.1:n.638A>C
ENST00000636033.1:c.*617A>C	ENSP00000489617.1:n.*617A>C
ENST00000636050.1:c.*624A>C	ENSP00000490562.1:n.*624A>C
ENST00000636128.1:c.460A>C	ENSP00000489789.1:p.Thr154Pro
ENST00000636160.1:c.*673A>C	ENSP00000489651.1:n.*673A>C
ENST00000636171.1:c.724A>C	ENSP00000489761.1:p.Thr242Pro
ENST00000636455.1:c.829A>C	ENSP00000490502.1:p.Thr277Pro
ENST00000636494.1:c.*561A>C	ENSP00000490388.1:n.*561A>C
ENST00000636563.1:n.443A>C
ENST00000636577.1:c.721A>C	ENSP00000490027.1:p.Thr241Pro
ENST00000636691.1:c.586A>C	ENSP00000490725.1:p.Thr196Pro
ENST00000636701.1:c.*432A>C	ENSP00000489800.1:n.*432A>C
ENST00000636815.1:c.698A>C
ENST00000636920.1:c.*617A>C	ENSP00000490437.1:n.*617A>C
ENST00000636997.1:c.694A>C	ENSP00000490093.1:p.Thr232Pro
ENST00000637013.1:c.*1149A>C	ENSP00000490596.1:n.*1149A>C
ENST00000637014.1:n.1188A>C
ENST00000637095.1:c.*561A>C	ENSP00000490415.1:n.*561A>C
ENST00000637244.1:c.*1299A>C	ENSP00000490188.1:n.*1299A>C
ENST00000637343.1:n.2218A>C
ENST00000637429.1:c.*993A>C	ENSP00000490522.1:n.*993A>C
ENST00000637484.1:c.*743A>C	ENSP00000490837.1:n.*743A>C
ENST00000637528.1:c.718A>C	ENSP00000490801.1:p.Thr240Pro
ENST00000637609.1:n.3502A>C
ENST00000637636.1:c.775A>C	ENSP00000490112.1:p.Thr259Pro
ENST00000637790.2:c.781A>C MANE Select	ENSP00000490272.1:p.Thr261Pro
ENST00000637857.1:n.1147A>C
ENST00000637922.1:c.586A>C	ENSP00000490071.1:p.Thr196Pro
ENST00000637991.1:c.754A>C	ENSP00000489901.1:p.Thr252Pro
ENST00000638028.1:n.998A>C
ENST00000638069.1:n.1602A>C
ENST00000262097.10:c.781A>C	ENSP00000262097.6:p.Thr261Pro
ENST00000314146.10:c.763A>C	ENSP00000326970.10:p.Thr255Pro
ENST00000381733.8:c.829A>C	ENSP00000371152.4:p.Thr277Pro
ENST00000519468.5:n.610A>C
ENST00000520781.5:c.706A>C	ENSP00000427751.1:p.Thr236Pro
ENST00000521542.1:n.494A>C
NM_001127505.1:c.763A>C	NP_001120977.1:p.Thr255Pro
NM_001127505.2:c.763A>C	NP_001120977.1:p.Thr255Pro
NM_004315.4:c.829A>C	NP_004306.3:p.Thr277Pro
NM_004315.5:c.829A>C	NP_004306.3:p.Thr277Pro
NM_177924.3:c.781A>C	NP_808592.2:p.Thr261Pro
NM_177924.4:c.781A>C	NP_808592.2:p.Thr261Pro
XM_005273504.2:c.715A>C	XP_005273561.1:p.Thr239Pro
NM_001363743.1:c.586A>C	NP_001350672.1:p.Thr196Pro
XM_005273504.3:c.715A>C	XP_005273561.1:p.Thr239Pro
NM_177924.5:c.781A>C MANE Select	NP_808592.2:p.Thr261Pro
NM_001127505.3:c.763A>C	NP_001120977.1:p.Thr255Pro
NM_001363743.2:c.586A>C	NP_001350672.1:p.Thr196Pro
NM_004315.6:c.829A>C	NP_004306.3:p.Thr277Pro