Canonical Allele Identifier: CA2091510

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214983784C>T , CM000664.2:g.214983784C>T	GRCh38
NC_000002.11:g.215848508C>T , CM000664.1:g.215848508C>T	GRCh37
NC_000002.10:g.215556753C>T	NCBI36
NG_007074.1:g.159644G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.4245G>A MANE Select	NP_775099.2:p.Thr1415=
ENST00000272895.12:c.4245G>A MANE Select	ENSP00000272895.7:p.Thr1415=
NM_015657.3:c.3291G>A	NP_056472.2:p.Thr1097=
NM_015657.4:c.3291G>A	NP_056472.2:p.Thr1097=
NM_173076.2:c.4245G>A	NP_775099.2:p.Thr1415=
NR_103740.1:n.4545G>A
NR_103740.2:n.4743G>A
ENST00000272895.11:c.4245G>A	ENSP00000272895.7:p.Thr1415=
ENST00000389661.4:c.3291G>A	ENSP00000374312.4:p.Thr1097=
XM_011510951.1:c.4254G>A	XP_011509253.1:p.Thr1418=
XM_011510951.2:c.4254G>A	XP_011509253.1:p.Thr1418=
XM_011510952.1:c.4254G>A	XP_011509254.1:p.Thr1418=