Canonical Allele Identifier: CA2091728

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990856G>A , CM000664.2:g.214990856G>A	GRCh38
NC_000002.11:g.215855580G>A , CM000664.1:g.215855580G>A	GRCh37
NC_000002.10:g.215563825G>A	NCBI36
NG_007074.1:g.152572C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.3470C>T MANE Select	NP_775099.2:p.Ser1157Leu
ENST00000272895.12:c.3470C>T MANE Select	ENSP00000272895.7:p.Ser1157Leu
NM_015657.3:c.2516C>T	NP_056472.2:p.Ser839Leu
NM_015657.4:c.2516C>T	NP_056472.2:p.Ser839Leu
NM_173076.2:c.3470C>T	NP_775099.2:p.Ser1157Leu
NR_103740.1:n.3770C>T
NR_103740.2:n.3968C>T
ENST00000272895.11:c.3470C>T	ENSP00000272895.7:p.Ser1157Leu
ENST00000389661.4:c.2516C>T	ENSP00000374312.4:p.Ser839Leu
XM_011510951.1:c.3470C>T	XP_011509253.1:p.Ser1157Leu
XM_011510951.2:c.3470C>T	XP_011509253.1:p.Ser1157Leu
XM_011510952.1:c.3470C>T	XP_011509254.1:p.Ser1157Leu