Canonical Allele Identifier: CA408455814

Gene: ABHD12

Linked Data

• gnomAD v4: 20-25307976-G-A
• MyVariant Identifiers: chr20:g.25288612G>A (hg19) ; chr20:g.25307976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25307976G>A , CM000682.2:g.25307976G>A	GRCh38
NC_000020.10:g.25288612G>A , CM000682.1:g.25288612G>A	GRCh37
NC_000020.9:g.25236612G>A	NCBI36
NG_028119.1:g.88007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339157.10:c.857C>T MANE Select	ENSP00000341408.5:p.Pro286Leu
ENST00000376542.8:c.857C>T	ENSP00000365725.3:p.Pro286Leu
ENST00000465694.2:c.311C>T	ENSP00000459278.2:p.Pro104Leu
ENST00000671784.1:c.311C>T	ENSP00000500451.1:p.Pro104Leu
ENST00000671858.1:c.311C>T	ENSP00000500550.1:p.Pro104Leu
ENST00000672001.1:n.368C>T
ENST00000672114.1:c.311C>T	ENSP00000499945.1:p.Pro104Leu
ENST00000672258.1:c.311C>T	ENSP00000499868.1:p.Pro104Leu
ENST00000672331.1:c.311C>T	ENSP00000500286.1:p.Pro104Leu
ENST00000672358.1:c.311C>T	ENSP00000500062.1:p.Pro104Leu
ENST00000672406.1:c.*196C>T	ENSP00000500208.1:n.*196C>T
ENST00000672566.1:c.386C>T	ENSP00000500106.1:p.Pro129Leu
ENST00000672596.1:c.311C>T	ENSP00000500290.1:p.Pro104Leu
ENST00000672871.1:c.311C>T	ENSP00000499949.1:p.Pro104Leu
ENST00000673094.1:c.311C>T	ENSP00000500257.1:p.Pro104Leu
ENST00000673121.1:c.413C>T	ENSP00000499839.1:p.Pro138Leu
ENST00000673227.1:c.311C>T	ENSP00000500514.1:p.Pro104Leu
ENST00000673524.1:c.419C>T
ENST00000339157.9:c.857C>T	ENSP00000341408.5:p.Pro286Leu
ENST00000376542.7:c.857C>T	ENSP00000365725.3:p.Pro286Leu
ENST00000481556.1:n.511C>T
ENST00000491682.5:c.386C>T	ENSP00000459495.1:p.Pro129Leu
ENST00000576316.5:c.161C>T	ENSP00000459121.1:p.Pro54Leu
NM_001042472.2:c.857C>T	NP_001035937.1:p.Pro286Leu
NM_015600.4:c.857C>T	NP_056415.1:p.Pro286Leu
XM_005260698.1:c.857C>T	XP_005260755.1:p.Pro286Leu
XM_005260699.3:c.857C>T	XP_005260756.1:p.Pro286Leu
XM_005260700.1:c.386C>T	XP_005260757.1:p.Pro129Leu
XM_011529214.1:c.857C>T	XP_011527516.1:p.Pro286Leu
XM_011529215.1:c.386C>T	XP_011527517.1:p.Pro129Leu
XM_011529216.1:c.386C>T	XP_011527518.1:p.Pro129Leu
XM_011529217.1:c.200C>T	XP_011527519.1:p.Pro67Leu
XM_011529218.1:c.200C>T	XP_011527520.1:p.Pro67Leu
XM_011529214.2:c.857C>T	XP_011527516.1:p.Pro286Leu
XM_017027796.1:c.386C>T	XP_016883285.1:p.Pro129Leu
XR_002958465.1:n.867C>T
XR_002958466.1:n.987C>T
XR_002958467.1:n.546C>T
NM_001042472.3:c.857C>T MANE Select	NP_001035937.1:p.Pro286Leu
NM_015600.5:c.857C>T	NP_056415.1:p.Pro286Leu