Canonical Allele Identifier: CA2341490

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 345223
• ClinVar RCV Id: RCV000310864 ; RCV003430880
• dbSNP Id: rs746970260
• ExAC: 3:43759274 C / T
• gnomAD v2: 3-43759274-C-T
• gnomAD v3: 3-43717782-C-T
• gnomAD v4: 3-43717782-C-T
• MyVariant Identifiers: chr3:g.43759274C>T (hg19) ; chr3:g.43717782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717782C>T , CM000665.2:g.43717782C>T	GRCh38
NC_000003.11:g.43759274C>T , CM000665.1:g.43759274C>T	GRCh37
NC_000003.10:g.43734278C>T	NCBI36
NG_007090.3:g.31900C>T
NG_007090.5:g.31913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.284C>T
ENST00000454293.2:c.762C>T	ENSP00000412014.2:p.Gly254=
ENST00000458276.7:c.774-661C>T	ENSP00000390849.3:n.774-661C>T
ENST00000463153.2:c.112C>T
ENST00000642351.1:c.762C>T	ENSP00000494478.1:p.Gly254=
ENST00000643140.1:c.*247C>T	ENSP00000495588.1:n.*247C>T
ENST00000643477.1:c.*346C>T	ENSP00000496220.1:n.*346C>T
ENST00000643500.1:c.*86C>T	ENSP00000494735.1:n.*86C>T
ENST00000643520.1:n.1051C>T
ENST00000644371.2:c.885C>T MANE Select	ENSP00000495778.1:p.Gly295=
ENST00000646378.1:c.*935C>T	ENSP00000495826.1:n.*935C>T
ENST00000646799.1:c.*248-661C>T	ENSP00000494829.1:n.*248-661C>T
ENST00000649763.1:c.885C>T	ENSP00000497701.1:p.Gly295=
ENST00000413300.1:c.286C>T	ENSP00000392159.1:p.Arg96Cys
ENST00000458276.6:c.885C>T	ENSP00000390849.2:p.Gly295=
ENST00000463153.1:n.115C>T
NM_016006.4:c.885C>T	NP_057090.2:p.Gly295=
XM_011533779.1:c.762C>T	XP_011532081.1:p.Gly254=
XM_011533780.1:c.774-661C>T	XP_011532082.1:n.774-661C>T
XR_940447.1:n.830C>T
NM_001355186.1:c.885C>T	NP_001342115.1:p.Gly295=
NM_001365649.1:c.762C>T	NP_001352578.1:p.Gly254=
NM_001365650.1:c.774-661C>T	NP_001352579.1:n.774-661C>T
NM_016006.5:c.885C>T	NP_057090.2:p.Gly295=
NR_158560.1:n.896C>T
NM_001355186.2:c.885C>T	NP_001342115.1:p.Gly295=
NM_016006.6:c.885C>T MANE Select	NP_057090.2:p.Gly295=