Canonical Allele Identifier: CA9795971

Gene: ABHD12

Linked Data

• dbSNP Id: rs751503495
• ExAC: 20:25288660 A / G
• gnomAD v2: 20-25288660-A-G
• gnomAD v4: 20-25308024-A-G
• MyVariant Identifiers: chr20:g.25288660A>G (hg19) ; chr20:g.25308024A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25308024A>G , CM000682.2:g.25308024A>G	GRCh38
NC_000020.10:g.25288660A>G , CM000682.1:g.25288660A>G	GRCh37
NC_000020.9:g.25236660A>G	NCBI36
NG_028119.1:g.87959T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339157.10:c.809T>C MANE Select	ENSP00000341408.5:p.Ile270Thr
ENST00000376542.8:c.809T>C	ENSP00000365725.3:p.Ile270Thr
ENST00000465694.2:c.263T>C	ENSP00000459278.2:p.Ile88Thr
ENST00000671784.1:c.263T>C	ENSP00000500451.1:p.Ile88Thr
ENST00000671858.1:c.263T>C	ENSP00000500550.1:p.Ile88Thr
ENST00000672001.1:n.320T>C
ENST00000672114.1:c.263T>C	ENSP00000499945.1:p.Ile88Thr
ENST00000672258.1:c.263T>C	ENSP00000499868.1:p.Ile88Thr
ENST00000672331.1:c.263T>C	ENSP00000500286.1:p.Ile88Thr
ENST00000672358.1:c.263T>C	ENSP00000500062.1:p.Ile88Thr
ENST00000672406.1:c.*148T>C	ENSP00000500208.1:n.*148T>C
ENST00000672566.1:c.338T>C	ENSP00000500106.1:p.Ile113Thr
ENST00000672596.1:c.263T>C	ENSP00000500290.1:p.Ile88Thr
ENST00000672871.1:c.263T>C	ENSP00000499949.1:p.Ile88Thr
ENST00000673094.1:c.263T>C	ENSP00000500257.1:p.Ile88Thr
ENST00000673121.1:c.365T>C	ENSP00000499839.1:p.Ile122Thr
ENST00000673227.1:c.263T>C	ENSP00000500514.1:p.Ile88Thr
ENST00000673524.1:c.371T>C
ENST00000339157.9:c.809T>C	ENSP00000341408.5:p.Ile270Thr
ENST00000376542.7:c.809T>C	ENSP00000365725.3:p.Ile270Thr
ENST00000481556.1:n.463T>C
ENST00000491682.5:c.338T>C	ENSP00000459495.1:p.Ile113Thr
ENST00000576316.5:c.113T>C	ENSP00000459121.1:p.Ile38Thr
NM_001042472.2:c.809T>C	NP_001035937.1:p.Ile270Thr
NM_015600.4:c.809T>C	NP_056415.1:p.Ile270Thr
XM_005260698.1:c.809T>C	XP_005260755.1:p.Ile270Thr
XM_005260699.3:c.809T>C	XP_005260756.1:p.Ile270Thr
XM_005260700.1:c.338T>C	XP_005260757.1:p.Ile113Thr
XM_011529214.1:c.809T>C	XP_011527516.1:p.Ile270Thr
XM_011529215.1:c.338T>C	XP_011527517.1:p.Ile113Thr
XM_011529216.1:c.338T>C	XP_011527518.1:p.Ile113Thr
XM_011529217.1:c.152T>C	XP_011527519.1:p.Ile51Thr
XM_011529218.1:c.152T>C	XP_011527520.1:p.Ile51Thr
XM_011529214.2:c.809T>C	XP_011527516.1:p.Ile270Thr
XM_017027796.1:c.338T>C	XP_016883285.1:p.Ile113Thr
XR_002958465.1:n.819T>C
XR_002958466.1:n.939T>C
XR_002958467.1:n.498T>C
NM_001042472.3:c.809T>C MANE Select	NP_001035937.1:p.Ile270Thr
NM_015600.5:c.809T>C	NP_056415.1:p.Ile270Thr