Canonical Allele Identifier: CA350468557

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990791C>A , CM000664.2:g.214990791C>A	GRCh38
NC_000002.11:g.215855515C>A , CM000664.1:g.215855515C>A	GRCh37
NC_000002.10:g.215563760C>A	NCBI36
NG_007074.1:g.152637G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.3535G>T MANE Select	NP_775099.2:p.Gly1179Ter
ENST00000272895.12:c.3535G>T MANE Select	ENSP00000272895.7:p.Gly1179Ter
NM_015657.3:c.2581G>T	NP_056472.2:p.Gly861Ter
NM_015657.4:c.2581G>T	NP_056472.2:p.Gly861Ter
NM_173076.2:c.3535G>T	NP_775099.2:p.Gly1179Ter
NR_103740.1:n.3835G>T
NR_103740.2:n.4033G>T
ENST00000272895.11:c.3535G>T	ENSP00000272895.7:p.Gly1179Ter
ENST00000389661.4:c.2581G>T	ENSP00000374312.4:p.Gly861Ter
XM_011510951.1:c.3535G>T	XP_011509253.1:p.Gly1179Ter
XM_011510951.2:c.3535G>T	XP_011509253.1:p.Gly1179Ter
XM_011510952.1:c.3535G>T	XP_011509254.1:p.Gly1179Ter