Canonical Allele Identifier: CA1367562863
Gene: ABHD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58246932G>C , CM000665.2:g.58246932G>C GRCh38
NC_000003.11:g.58232659G>C , CM000665.1:g.58232659G>C GRCh37
NC_000003.10:g.58207699G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000478253.6:c.-90-2946G>C MANE Select ENSP00000420315.1:n.-90-2946G>C
ENST00000295962.8:c.-26+9016G>C ENSP00000295962.4:n.-26+9016G>C
ENST00000463756.5:c.-90-2946G>C ENSP00000420408.1:n.-90-2946G>C
ENST00000475982.5:c.-26+9016G>C ENSP00000418209.1:n.-26+9016G>C
ENST00000478253.5:c.-90-2946G>C ENSP00000420315.1:n.-90-2946G>C
ENST00000485900.1:c.-26+8288G>C ENSP00000418934.1:n.-26+8288G>C
ENST00000613521.4:c.-26+9016G>C ENSP00000484876.1:n.-26+9016G>C
NM_020676.5:c.-26+9016G>C NP_065727.4:n.-26+9016G>C
XM_005265334.2:c.-90-2946G>C XP_005265391.1:n.-90-2946G>C
XM_005265335.2:c.-26+9016G>C XP_005265392.1:n.-26+9016G>C
XM_005265336.2:c.-90-2946G>C XP_005265393.1:n.-90-2946G>C
NM_001320126.1:c.-90-2946G>C NP_001307055.1:n.-90-2946G>C
NM_020676.6:c.-26+9016G>C NP_065727.4:n.-26+9016G>C
XM_005265334.4:c.-90-2946G>C XP_005265391.1:n.-90-2946G>C
XM_005265335.3:c.-26+9016G>C XP_005265392.1:n.-26+9016G>C
NM_001320126.2:c.-90-2946G>C MANE Select NP_001307055.1:n.-90-2946G>C
NM_020676.7:c.-26+9016G>C NP_065727.4:n.-26+9016G>C