Canonical Allele Identifier: CA408455913

Gene: ABHD12

Linked Data

• dbSNP Id: rs1343233380
• gnomAD v2: 20-25288655-C-G
• gnomAD v4: 20-25308019-C-G
• MyVariant Identifiers: chr20:g.25288655C>G (hg19) ; chr20:g.25308019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25308019C>G , CM000682.2:g.25308019C>G	GRCh38
NC_000020.10:g.25288655C>G , CM000682.1:g.25288655C>G	GRCh37
NC_000020.9:g.25236655C>G	NCBI36
NG_028119.1:g.87964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339157.10:c.814G>C MANE Select	ENSP00000341408.5:p.Glu272Gln
ENST00000376542.8:c.814G>C	ENSP00000365725.3:p.Glu272Gln
ENST00000465694.2:c.268G>C	ENSP00000459278.2:p.Glu90Gln
ENST00000671784.1:c.268G>C	ENSP00000500451.1:p.Glu90Gln
ENST00000671858.1:c.268G>C	ENSP00000500550.1:p.Glu90Gln
ENST00000672001.1:n.325G>C
ENST00000672114.1:c.268G>C	ENSP00000499945.1:p.Glu90Gln
ENST00000672258.1:c.268G>C	ENSP00000499868.1:p.Glu90Gln
ENST00000672331.1:c.268G>C	ENSP00000500286.1:p.Glu90Gln
ENST00000672358.1:c.268G>C	ENSP00000500062.1:p.Glu90Gln
ENST00000672406.1:c.*153G>C	ENSP00000500208.1:n.*153G>C
ENST00000672566.1:c.343G>C	ENSP00000500106.1:p.Glu115Gln
ENST00000672596.1:c.268G>C	ENSP00000500290.1:p.Glu90Gln
ENST00000672871.1:c.268G>C	ENSP00000499949.1:p.Glu90Gln
ENST00000673094.1:c.268G>C	ENSP00000500257.1:p.Glu90Gln
ENST00000673121.1:c.370G>C	ENSP00000499839.1:p.Glu124Gln
ENST00000673227.1:c.268G>C	ENSP00000500514.1:p.Glu90Gln
ENST00000673524.1:c.376G>C
ENST00000339157.9:c.814G>C	ENSP00000341408.5:p.Glu272Gln
ENST00000376542.7:c.814G>C	ENSP00000365725.3:p.Glu272Gln
ENST00000481556.1:n.468G>C
ENST00000491682.5:c.343G>C	ENSP00000459495.1:p.Glu115Gln
ENST00000576316.5:c.118G>C	ENSP00000459121.1:p.Glu40Gln
NM_001042472.2:c.814G>C	NP_001035937.1:p.Glu272Gln
NM_015600.4:c.814G>C	NP_056415.1:p.Glu272Gln
XM_005260698.1:c.814G>C	XP_005260755.1:p.Glu272Gln
XM_005260699.3:c.814G>C	XP_005260756.1:p.Glu272Gln
XM_005260700.1:c.343G>C	XP_005260757.1:p.Glu115Gln
XM_011529214.1:c.814G>C	XP_011527516.1:p.Glu272Gln
XM_011529215.1:c.343G>C	XP_011527517.1:p.Glu115Gln
XM_011529216.1:c.343G>C	XP_011527518.1:p.Glu115Gln
XM_011529217.1:c.157G>C	XP_011527519.1:p.Glu53Gln
XM_011529218.1:c.157G>C	XP_011527520.1:p.Glu53Gln
XM_011529214.2:c.814G>C	XP_011527516.1:p.Glu272Gln
XM_017027796.1:c.343G>C	XP_016883285.1:p.Glu115Gln
XR_002958465.1:n.824G>C
XR_002958466.1:n.944G>C
XR_002958467.1:n.503G>C
NM_001042472.3:c.814G>C MANE Select	NP_001035937.1:p.Glu272Gln
NM_015600.5:c.814G>C	NP_056415.1:p.Glu272Gln