Canonical Allele Identifier: CA350464973

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214987741C>T , CM000664.2:g.214987741C>T	GRCh38
NC_000002.11:g.215852465C>T , CM000664.1:g.215852465C>T	GRCh37
NC_000002.10:g.215560710C>T	NCBI36
NG_007074.1:g.155687G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.3882G>A MANE Select	NP_775099.2:p.Trp1294Ter
ENST00000272895.12:c.3882G>A MANE Select	ENSP00000272895.7:p.Trp1294Ter
NM_015657.3:c.2928G>A	NP_056472.2:p.Trp976Ter
NM_015657.4:c.2928G>A	NP_056472.2:p.Trp976Ter
NM_173076.2:c.3882G>A	NP_775099.2:p.Trp1294Ter
NR_103740.1:n.4182G>A
NR_103740.2:n.4380G>A
ENST00000272895.11:c.3882G>A	ENSP00000272895.7:p.Trp1294Ter
ENST00000389661.4:c.2928G>A	ENSP00000374312.4:p.Trp976Ter
XM_011510951.1:c.3882G>A	XP_011509253.1:p.Trp1294Ter
XM_011510951.2:c.3882G>A	XP_011509253.1:p.Trp1294Ter
XM_011510952.1:c.3882G>A	XP_011509254.1:p.Trp1294Ter