Canonical Allele Identifier: CA74391288

Gene: ABHD5

Linked Data

• dbSNP Id: rs960320155
• gnomAD v4: 3-43699353-T-C
• MyVariant Identifiers: chr3:g.43740845T>C (hg19) ; chr3:g.43699353T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699353T>C , CM000665.2:g.43699353T>C	GRCh38
NC_000003.11:g.43740845T>C , CM000665.1:g.43740845T>C	GRCh37
NC_000003.10:g.43715849T>C	NCBI36
NG_007090.3:g.13471T>C
NG_007090.5:g.13484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.125T>C	ENSP00000013894.2:p.Met42Thr
ENST00000454293.2:c.2T>C	ENSP00000412014.2:p.Met1Thr
ENST00000458276.7:c.125T>C	ENSP00000390849.3:p.Met42Thr
ENST00000642351.1:c.2T>C	ENSP00000494478.1:p.Met1Thr
ENST00000643140.1:c.125T>C	ENSP00000495588.1:p.Met42Thr
ENST00000643477.1:c.125T>C	ENSP00000496220.1:p.Met42Thr
ENST00000643500.1:c.125T>C	ENSP00000494735.1:p.Met42Thr
ENST00000643520.1:n.173T>C
ENST00000644371.2:c.125T>C MANE Select	ENSP00000495778.1:p.Met42Thr
ENST00000646378.1:c.*175T>C	ENSP00000495826.1:n.*175T>C
ENST00000646799.1:c.125T>C	ENSP00000494829.1:p.Met42Thr
ENST00000649763.1:c.125T>C	ENSP00000497701.1:p.Met42Thr
ENST00000013894.2:c.125T>C	ENSP00000013894.2:p.Met42Thr
ENST00000454293.1:c.2T>C	ENSP00000412014.1:p.Met1Thr
ENST00000456453.5:c.2T>C	ENSP00000391582.1:p.Met1Thr
ENST00000458276.6:c.125T>C	ENSP00000390849.2:p.Met42Thr
ENST00000486764.1:n.226T>C
NM_016006.4:c.125T>C	NP_057090.2:p.Met42Thr
XM_011533779.1:c.2T>C	XP_011532081.1:p.Met1Thr
XM_011533780.1:c.125T>C	XP_011532082.1:p.Met42Thr
XR_940447.1:n.182T>C
NM_001355186.1:c.125T>C	NP_001342115.1:p.Met42Thr
NM_001365649.1:c.2T>C	NP_001352578.1:p.Met1Thr
NM_001365650.1:c.125T>C	NP_001352579.1:p.Met42Thr
NM_016006.5:c.125T>C	NP_057090.2:p.Met42Thr
NR_158560.1:n.248T>C
NM_001355186.2:c.125T>C	NP_001342115.1:p.Met42Thr
NM_016006.6:c.125T>C MANE Select	NP_057090.2:p.Met42Thr