Canonical Allele Identifier: CA74393464

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 902015
• ClinVar RCV Id: RCV001148249
• dbSNP Id: rs916762006
• gnomAD v2: 3-43762230-G-A
• gnomAD v3: 3-43720738-G-A
• gnomAD v4: 3-43720738-G-A
• MyVariant Identifiers: chr3:g.43762230G>A (hg19) ; chr3:g.43720738G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720738G>A , CM000665.2:g.43720738G>A	GRCh38
NC_000003.11:g.43762230G>A , CM000665.1:g.43762230G>A	GRCh37
NC_000003.10:g.43737234G>A	NCBI36
NG_007090.3:g.34856G>A
NG_007090.5:g.34869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2177G>A	ENSP00000412014.2:n.*29+2177G>A
ENST00000463153.2:c.306+2177G>A
ENST00000643477.1:c.*2717G>A	ENSP00000496220.1:n.*2717G>A
ENST00000644371.2:c.*2206G>A MANE Select	ENSP00000495778.1:n.*2206G>A
ENST00000649763.1:c.*29+2177G>A	ENSP00000497701.1:n.*29+2177G>A
ENST00000463153.1:n.309+2177G>A
NM_016006.4:c.*2206G>A	NP_057090.2:n.*2206G>A
XM_011533779.1:c.*2206G>A	XP_011532081.1:n.*2206G>A
XM_011533780.1:c.*2232G>A	XP_011532082.1:n.*2232G>A
XR_940447.1:n.3201G>A
NM_001355186.1:c.*29+2177G>A	NP_001342115.1:n.*29+2177G>A
NM_001365649.1:c.*2206G>A	NP_001352578.1:n.*2206G>A
NM_001365650.1:c.*2232G>A	NP_001352579.1:n.*2232G>A
NM_016006.5:c.*2206G>A	NP_057090.2:n.*2206G>A
NR_158560.1:n.3267G>A
NM_001355186.2:c.*29+2177G>A	NP_001342115.1:n.*29+2177G>A
NM_016006.6:c.*2206G>A MANE Select	NP_057090.2:n.*2206G>A