Canonical Allele Identifier: CA170103

Gene: ABHD12

Linked Data

• ClinVar Variation Id: 143235
• ClinVar RCV Id: RCV000132767
• dbSNP Id: rs587777602
• gnomAD v4: 20-25302260-G-C
• MyVariant Identifiers: chr20:g.25282896G>C (hg19) ; chr20:g.25302260G>C (hg38)
• PubMed: PMID:24697911

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25302260G>C , CM000682.2:g.25302260G>C	GRCh38
NC_000020.10:g.25282896G>C , CM000682.1:g.25282896G>C	GRCh37
NC_000020.9:g.25230896G>C	NCBI36
NG_028119.1:g.93723C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000339157.10:c.1116C>G MANE Select	ENSP00000341408.5:p.His372Gln
ENST00000376542.8:c.1116C>G	ENSP00000365725.3:p.His372Gln
ENST00000465694.2:c.570C>G	ENSP00000459278.2:p.His190Gln
ENST00000671784.1:c.491C>G	ENSP00000500451.1:p.Thr164Arg
ENST00000671858.1:c.570C>G	ENSP00000500550.1:p.His190Gln
ENST00000672114.1:c.483+1290C>G	ENSP00000499945.1:n.483+1290C>G
ENST00000672258.1:c.500C>G	ENSP00000499868.1:p.Thr167Arg
ENST00000672331.1:c.487C>G	ENSP00000500286.1:n.487C>G
ENST00000672358.1:c.570C>G	ENSP00000500062.1:p.His190Gln
ENST00000672406.1:c.*455C>G	ENSP00000500208.1:n.*455C>G
ENST00000672566.1:c.645C>G	ENSP00000500106.1:p.His215Gln
ENST00000672596.1:c.570C>G	ENSP00000500290.1:p.His190Gln
ENST00000672871.1:c.404+4573C>G	ENSP00000499949.1:n.404+4573C>G
ENST00000673121.1:c.672C>G	ENSP00000499839.1:p.His224Gln
ENST00000673227.1:c.570C>G	ENSP00000500514.1:p.His190Gln
ENST00000673524.1:c.678C>G
ENST00000339157.9:c.1116C>G	ENSP00000341408.5:p.His372Gln
ENST00000376542.7:c.1116C>G	ENSP00000365725.3:p.His372Gln
NM_001042472.2:c.1116C>G	NP_001035937.1:p.His372Gln
NM_015600.4:c.1116C>G	NP_056415.1:p.His372Gln
XM_005260699.3:c.1029+1290C>G	XP_005260756.1:n.1029+1290C>G
XM_011529214.1:c.1116C>G	XP_011527516.1:p.His372Gln
XM_011529214.2:c.1116C>G	XP_011527516.1:p.His372Gln
XM_017027796.1:c.645C>G	XP_016883285.1:p.His215Gln
XR_002958465.1:n.2329C>G
XR_002958466.1:n.2449C>G
XR_002958467.1:n.2008C>G
NM_001042472.3:c.1116C>G MANE Select	NP_001035937.1:p.His372Gln
NM_015600.5:c.1116C>G	NP_056415.1:p.His372Gln