Canonical Allele Identifier: CA10618819

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 345255
• ClinVar RCV Id: RCV000346562
• dbSNP Id: rs144021874
• gnomAD v3: 3-43720489-G-T
• gnomAD v4: 3-43720489-G-T
• MyVariant Identifiers: chr3:g.43761981G>T (hg19) ; chr3:g.43720489G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720489G>T , CM000665.2:g.43720489G>T	GRCh38
NC_000003.11:g.43761981G>T , CM000665.1:g.43761981G>T	GRCh37
NC_000003.10:g.43736985G>T	NCBI36
NG_007090.3:g.34607G>T
NG_007090.5:g.34620G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.*29+1928G>T	ENSP00000412014.2:n.*29+1928G>T
ENST00000463153.2:c.306+1928G>T
ENST00000643477.1:c.*2468G>T	ENSP00000496220.1:n.*2468G>T
ENST00000644371.2:c.*1957G>T MANE Select	ENSP00000495778.1:n.*1957G>T
ENST00000649763.1:c.*29+1928G>T	ENSP00000497701.1:n.*29+1928G>T
ENST00000463153.1:n.309+1928G>T
NM_016006.4:c.*1957G>T	NP_057090.2:n.*1957G>T
XM_011533779.1:c.*1957G>T	XP_011532081.1:n.*1957G>T
XM_011533780.1:c.*1983G>T	XP_011532082.1:n.*1983G>T
XR_940447.1:n.2952G>T
NM_001355186.1:c.*29+1928G>T	NP_001342115.1:n.*29+1928G>T
NM_001365649.1:c.*1957G>T	NP_001352578.1:n.*1957G>T
NM_001365650.1:c.*1983G>T	NP_001352579.1:n.*1983G>T
NM_016006.5:c.*1957G>T	NP_057090.2:n.*1957G>T
NR_158560.1:n.3018G>T
NM_001355186.2:c.*29+1928G>T	NP_001342115.1:n.*29+1928G>T
NM_016006.6:c.*1957G>T MANE Select	NP_057090.2:n.*1957G>T