Canonical Allele Identifier: CA408456336

Gene: ABHD12

Linked Data

• ClinVar Variation Id: 438131
• ClinVar RCV Id: RCV000505023 ; RCV001542617
• dbSNP Id: rs1555811525
• MyVariant Identifiers: chr20:g.25290213T>C (hg19) ; chr20:g.25309577T>C (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25309577T>C , CM000682.2:g.25309577T>C	GRCh38
NC_000020.10:g.25290213T>C , CM000682.1:g.25290213T>C	GRCh37
NC_000020.9:g.25238213T>C	NCBI36
NG_028119.1:g.86406A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000339157.10:c.620-2A>G MANE Select	ENSP00000341408.5:n.620-2A>G
ENST00000376542.8:c.620-2A>G	ENSP00000365725.3:n.620-2A>G
ENST00000465694.2:c.74-2A>G	ENSP00000459278.2:n.74-2A>G
ENST00000671784.1:c.74-2A>G	ENSP00000500451.1:n.74-2A>G
ENST00000671858.1:c.74-2A>G	ENSP00000500550.1:n.74-2A>G
ENST00000672001.1:n.131-2A>G
ENST00000672114.1:c.74-2A>G	ENSP00000499945.1:n.74-2A>G
ENST00000672258.1:c.74-2A>G	ENSP00000499868.1:n.74-2A>G
ENST00000672331.1:c.74-2A>G	ENSP00000500286.1:n.74-2A>G
ENST00000672358.1:c.74-2A>G	ENSP00000500062.1:n.74-2A>G
ENST00000672406.1:c.103-2A>G	ENSP00000500208.1:n.103-2A>G
ENST00000672566.1:c.149-2A>G	ENSP00000500106.1:n.149-2A>G
ENST00000672596.1:c.74-2A>G	ENSP00000500290.1:n.74-2A>G
ENST00000672871.1:c.74-2A>G	ENSP00000499949.1:n.74-2A>G
ENST00000673094.1:c.74-2A>G	ENSP00000500257.1:n.74-2A>G
ENST00000673121.1:c.176-2A>G	ENSP00000499839.1:n.176-2A>G
ENST00000673227.1:c.74-2A>G	ENSP00000500514.1:n.74-2A>G
ENST00000673524.1:c.312-1083A>G
ENST00000339157.9:c.620-2A>G	ENSP00000341408.5:n.620-2A>G
ENST00000376542.7:c.620-2A>G	ENSP00000365725.3:n.620-2A>G
ENST00000450393.5:c.485-2A>G	ENSP00000413311.1:n.485-2A>G
ENST00000471287.5:c.149-2A>G	ENSP00000460950.1:n.149-2A>G
ENST00000481556.1:n.274-2A>G
ENST00000491682.5:c.149-2A>G	ENSP00000459495.1:n.149-2A>G
NM_001042472.2:c.620-2A>G	NP_001035937.1:n.620-2A>G
NM_015600.4:c.620-2A>G	NP_056415.1:n.620-2A>G
XM_005260698.1:c.620-2A>G	XP_005260755.1:n.620-2A>G
XM_005260699.3:c.620-2A>G	XP_005260756.1:n.620-2A>G
XM_005260700.1:c.149-2A>G	XP_005260757.1:n.149-2A>G
XM_011529214.1:c.620-2A>G	XP_011527516.1:n.620-2A>G
XM_011529215.1:c.149-2A>G	XP_011527517.1:n.149-2A>G
XM_011529216.1:c.149-2A>G	XP_011527518.1:n.149-2A>G
XM_011529217.1:c.-38-2A>G	XP_011527519.1:n.-38-2A>G
XM_011529218.1:c.-38-2A>G	XP_011527520.1:n.-38-2A>G
XM_011529214.2:c.620-2A>G	XP_011527516.1:n.620-2A>G
XM_017027796.1:c.149-2A>G	XP_016883285.1:n.149-2A>G
XR_002958465.1:n.630-2A>G
XR_002958466.1:n.750-2A>G
XR_002958467.1:n.309-2A>G
NM_001042472.3:c.620-2A>G MANE Select	NP_001035937.1:n.620-2A>G
NM_015600.5:c.620-2A>G	NP_056415.1:n.620-2A>G