Canonical Allele Identifier: CA4650698

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 909345
• ClinVar RCV Id: RCV001160352 ; RCV001343987 ; RCV002483908
• dbSNP Id: rs374187681
• ExAC: 8:17918953 T / G
• gnomAD v2: 8-17918953-T-G
• gnomAD v3: 8-18061444-T-G
• gnomAD v4: 8-18061444-T-G
• MyVariant Identifiers: chr8:g.17918953T>G (hg19) ; chr8:g.18061444T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061444T>G , CM000670.2:g.18061444T>G	GRCh38
NC_000008.10:g.17918953T>G , CM000670.1:g.17918953T>G	GRCh37
NC_000008.9:g.17963233T>G	NCBI36
NG_008985.1:g.28555A>C
NG_008985.2:g.28555A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.766A>C	ENSP00000371152.4:p.Ile256Leu
ENST00000517409.2:n.686A>C
ENST00000518746.2:n.2404A>C
ENST00000519545.6:n.735A>C
ENST00000520781.6:c.643A>C	ENSP00000427751.1:p.Ile215Leu
ENST00000521542.2:n.26A>C
ENST00000635756.1:c.131A>C
ENST00000635944.1:c.*554A>C	ENSP00000490195.1:n.*554A>C
ENST00000635998.1:c.718A>C	ENSP00000490506.1:p.Ile240Leu
ENST00000636009.1:c.575A>C	ENSP00000489988.1:n.575A>C
ENST00000636033.1:c.*554A>C	ENSP00000489617.1:n.*554A>C
ENST00000636050.1:c.*561A>C	ENSP00000490562.1:n.*561A>C
ENST00000636128.1:c.397A>C	ENSP00000489789.1:p.Ile133Leu
ENST00000636160.1:c.*610A>C	ENSP00000489651.1:n.*610A>C
ENST00000636171.1:c.661A>C	ENSP00000489761.1:p.Ile221Leu
ENST00000636455.1:c.766A>C	ENSP00000490502.1:p.Ile256Leu
ENST00000636494.1:c.*498A>C	ENSP00000490388.1:n.*498A>C
ENST00000636563.1:n.380A>C
ENST00000636577.1:c.658A>C	ENSP00000490027.1:p.Ile220Leu
ENST00000636691.1:c.523A>C	ENSP00000490725.1:p.Ile175Leu
ENST00000636701.1:c.*369A>C	ENSP00000489800.1:n.*369A>C
ENST00000636815.1:c.635A>C
ENST00000636920.1:c.*554A>C	ENSP00000490437.1:n.*554A>C
ENST00000636997.1:c.631A>C	ENSP00000490093.1:p.Ile211Leu
ENST00000637013.1:c.*1086A>C	ENSP00000490596.1:n.*1086A>C
ENST00000637014.1:n.1125A>C
ENST00000637095.1:c.*498A>C	ENSP00000490415.1:n.*498A>C
ENST00000637244.1:c.*1236A>C	ENSP00000490188.1:n.*1236A>C
ENST00000637343.1:n.2155A>C
ENST00000637429.1:c.*930A>C	ENSP00000490522.1:n.*930A>C
ENST00000637484.1:c.*680A>C	ENSP00000490837.1:n.*680A>C
ENST00000637528.1:c.655A>C	ENSP00000490801.1:p.Ile219Leu
ENST00000637609.1:n.3439A>C
ENST00000637636.1:c.712A>C	ENSP00000490112.1:p.Ile238Leu
ENST00000637790.2:c.718A>C MANE Select	ENSP00000490272.1:p.Ile240Leu
ENST00000637857.1:n.1084A>C
ENST00000637922.1:c.523A>C	ENSP00000490071.1:p.Ile175Leu
ENST00000637991.1:c.691A>C	ENSP00000489901.1:p.Ile231Leu
ENST00000638028.1:n.935A>C
ENST00000638069.1:n.1539A>C
ENST00000262097.10:c.718A>C	ENSP00000262097.6:p.Ile240Leu
ENST00000314146.10:c.700A>C	ENSP00000326970.10:p.Ile234Leu
ENST00000381733.8:c.766A>C	ENSP00000371152.4:p.Ile256Leu
ENST00000518746.1:n.535A>C
ENST00000519468.5:n.547A>C
ENST00000520781.5:c.643A>C	ENSP00000427751.1:p.Ile215Leu
ENST00000521542.1:n.431A>C
NM_001127505.1:c.700A>C	NP_001120977.1:p.Ile234Leu
NM_001127505.2:c.700A>C	NP_001120977.1:p.Ile234Leu
NM_004315.4:c.766A>C	NP_004306.3:p.Ile256Leu
NM_004315.5:c.766A>C	NP_004306.3:p.Ile256Leu
NM_177924.3:c.718A>C	NP_808592.2:p.Ile240Leu
NM_177924.4:c.718A>C	NP_808592.2:p.Ile240Leu
XM_005273504.2:c.652A>C	XP_005273561.1:p.Ile218Leu
NM_001363743.1:c.523A>C	NP_001350672.1:p.Ile175Leu
XM_005273504.3:c.652A>C	XP_005273561.1:p.Ile218Leu
NM_177924.5:c.718A>C MANE Select	NP_808592.2:p.Ile240Leu
NM_001127505.3:c.700A>C	NP_001120977.1:p.Ile234Leu
NM_001363743.2:c.523A>C	NP_001350672.1:p.Ile175Leu
NM_004315.6:c.766A>C	NP_004306.3:p.Ile256Leu