Canonical Allele Identifier: CA313719460

Gene: ABHD12

Linked Data

• dbSNP Id: rs995580201
• MyVariant Identifiers: chr20:g.25288631C>A (hg19) ; chr20:g.25307995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25307995C>A , CM000682.2:g.25307995C>A	GRCh38
NC_000020.10:g.25288631C>A , CM000682.1:g.25288631C>A	GRCh37
NC_000020.9:g.25236631C>A	NCBI36
NG_028119.1:g.87988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339157.10:c.838G>T MANE Select	ENSP00000341408.5:p.Glu280Ter
ENST00000376542.8:c.838G>T	ENSP00000365725.3:p.Glu280Ter
ENST00000465694.2:c.292G>T	ENSP00000459278.2:p.Glu98Ter
ENST00000671784.1:c.292G>T	ENSP00000500451.1:p.Glu98Ter
ENST00000671858.1:c.292G>T	ENSP00000500550.1:p.Glu98Ter
ENST00000672001.1:n.349G>T
ENST00000672114.1:c.292G>T	ENSP00000499945.1:p.Glu98Ter
ENST00000672258.1:c.292G>T	ENSP00000499868.1:p.Glu98Ter
ENST00000672331.1:c.292G>T	ENSP00000500286.1:p.Glu98Ter
ENST00000672358.1:c.292G>T	ENSP00000500062.1:p.Glu98Ter
ENST00000672406.1:c.*177G>T	ENSP00000500208.1:n.*177G>T
ENST00000672566.1:c.367G>T	ENSP00000500106.1:p.Glu123Ter
ENST00000672596.1:c.292G>T	ENSP00000500290.1:p.Glu98Ter
ENST00000672871.1:c.292G>T	ENSP00000499949.1:p.Glu98Ter
ENST00000673094.1:c.292G>T	ENSP00000500257.1:p.Glu98Ter
ENST00000673121.1:c.394G>T	ENSP00000499839.1:p.Glu132Ter
ENST00000673227.1:c.292G>T	ENSP00000500514.1:p.Glu98Ter
ENST00000673524.1:c.400G>T
ENST00000339157.9:c.838G>T	ENSP00000341408.5:p.Glu280Ter
ENST00000376542.7:c.838G>T	ENSP00000365725.3:p.Glu280Ter
ENST00000481556.1:n.492G>T
ENST00000491682.5:c.367G>T	ENSP00000459495.1:p.Glu123Ter
ENST00000576316.5:c.142G>T	ENSP00000459121.1:p.Glu48Ter
NM_001042472.2:c.838G>T	NP_001035937.1:p.Glu280Ter
NM_015600.4:c.838G>T	NP_056415.1:p.Glu280Ter
XM_005260698.1:c.838G>T	XP_005260755.1:p.Glu280Ter
XM_005260699.3:c.838G>T	XP_005260756.1:p.Glu280Ter
XM_005260700.1:c.367G>T	XP_005260757.1:p.Glu123Ter
XM_011529214.1:c.838G>T	XP_011527516.1:p.Glu280Ter
XM_011529215.1:c.367G>T	XP_011527517.1:p.Glu123Ter
XM_011529216.1:c.367G>T	XP_011527518.1:p.Glu123Ter
XM_011529217.1:c.181G>T	XP_011527519.1:p.Glu61Ter
XM_011529218.1:c.181G>T	XP_011527520.1:p.Glu61Ter
XM_011529214.2:c.838G>T	XP_011527516.1:p.Glu280Ter
XM_017027796.1:c.367G>T	XP_016883285.1:p.Glu123Ter
XR_002958465.1:n.848G>T
XR_002958466.1:n.968G>T
XR_002958467.1:n.527G>T
NM_001042472.3:c.838G>T MANE Select	NP_001035937.1:p.Glu280Ter
NM_015600.5:c.838G>T	NP_056415.1:p.Glu280Ter