Canonical Allele Identifier: CA350461705

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214982225C>A , CM000664.2:g.214982225C>A	GRCh38
NC_000002.11:g.215846949C>A , CM000664.1:g.215846949C>A	GRCh37
NC_000002.10:g.215555194C>A	NCBI36
NG_007074.1:g.161203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4541G>T MANE Select	ENSP00000272895.7:p.Arg1514Leu
ENST00000272895.11:c.4541G>T	ENSP00000272895.7:p.Arg1514Leu
ENST00000389661.4:c.3587G>T	ENSP00000374312.4:p.Arg1196Leu
NM_015657.3:c.3587G>T	NP_056472.2:p.Arg1196Leu
NM_173076.2:c.4541G>T	NP_775099.2:p.Arg1514Leu
NR_103740.1:n.4841G>T
XM_011510951.1:c.4550G>T	XP_011509253.1:p.Arg1517Leu
XM_011510952.1:c.4550G>T	XP_011509254.1:p.Arg1517Leu
XM_011510951.2:c.4550G>T	XP_011509253.1:p.Arg1517Leu
NM_173076.3:c.4541G>T MANE Select	NP_775099.2:p.Arg1514Leu
NR_103740.2:n.5039G>T
NM_015657.4:c.3587G>T	NP_056472.2:p.Arg1196Leu