Canonical Allele Identifier: CA170105

Gene: ABHD12

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25320264C>T , CM000682.2:g.25320264C>T	GRCh38
NC_000020.10:g.25300900C>T , CM000682.1:g.25300900C>T	GRCh37
NC_000020.9:g.25248900C>T	NCBI36
NG_028119.1:g.75719G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042472.3:c.477G>A MANE Select	NP_001035937.1:p.Trp159Ter
ENST00000339157.10:c.477G>A MANE Select	ENSP00000341408.5:p.Trp159Ter
NM_001042472.2:c.477G>A	NP_001035937.1:p.Trp159Ter
NM_015600.4:c.477G>A	NP_056415.1:p.Trp159Ter
NM_015600.5:c.477G>A	NP_056415.1:p.Trp159Ter
ENST00000339157.9:c.477G>A	ENSP00000341408.5:p.Trp159Ter
ENST00000376542.7:c.477G>A	ENSP00000365725.3:p.Trp159Ter
ENST00000376542.8:c.477G>A	ENSP00000365725.3:p.Trp159Ter
ENST00000450393.5:c.342G>A	ENSP00000413311.1:p.Trp114Ter
ENST00000461204.1:c.*240G>A	ENSP00000460249.1:n.*240G>A
ENST00000471287.5:c.6G>A	ENSP00000460950.1:p.Trp2Ter
ENST00000491682.5:c.6G>A	ENSP00000459495.1:p.Trp2Ter
ENST00000672406.1:c.6G>A	ENSP00000500208.1:p.Trp2Ter
ENST00000672566.1:c.6G>A	ENSP00000500106.1:p.Trp2Ter
ENST00000673121.1:c.6G>A	ENSP00000499839.1:p.Trp2Ter
ENST00000673524.1:c.169G>A
XM_005260698.1:c.477G>A	XP_005260755.1:p.Trp159Ter
XM_005260699.3:c.477G>A	XP_005260756.1:p.Trp159Ter
XM_005260700.1:c.6G>A	XP_005260757.1:p.Trp2Ter
XM_011529214.1:c.477G>A	XP_011527516.1:p.Trp159Ter
XM_011529214.2:c.477G>A	XP_011527516.1:p.Trp159Ter
XM_011529215.1:c.6G>A	XP_011527517.1:p.Trp2Ter
XM_011529216.1:c.6G>A	XP_011527518.1:p.Trp2Ter
XM_011529217.1:c.-116+3061G>A	XP_011527519.1:n.-116+3061G>A
XM_011529218.1:c.-116+3061G>A	XP_011527520.1:n.-116+3061G>A
XM_017027796.1:c.6G>A	XP_016883285.1:p.Trp2Ter
XM_017027797.2:c.477G>A	XP_016883286.1:p.Trp159Ter
XR_002958465.1:n.487G>A
XR_002958466.1:n.607G>A
XR_002958467.1:n.231+3061G>A