Canonical Allele Identifier: CA2091458

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214982223G>A , CM000664.2:g.214982223G>A	GRCh38
NC_000002.11:g.215846947G>A , CM000664.1:g.215846947G>A	GRCh37
NC_000002.10:g.215555192G>A	NCBI36
NG_007074.1:g.161205C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.4543C>T MANE Select	NP_775099.2:p.Arg1515Ter
ENST00000272895.12:c.4543C>T MANE Select	ENSP00000272895.7:p.Arg1515Ter
NM_015657.3:c.3589C>T	NP_056472.2:p.Arg1197Ter
NM_015657.4:c.3589C>T	NP_056472.2:p.Arg1197Ter
NM_173076.2:c.4543C>T	NP_775099.2:p.Arg1515Ter
NR_103740.1:n.4843C>T
NR_103740.2:n.5041C>T
ENST00000272895.11:c.4543C>T	ENSP00000272895.7:p.Arg1515Ter
ENST00000389661.4:c.3589C>T	ENSP00000374312.4:p.Arg1197Ter
XM_011510951.1:c.4552C>T	XP_011509253.1:p.Arg1518Ter
XM_011510951.2:c.4552C>T	XP_011509253.1:p.Arg1518Ter
XM_011510952.1:c.4552C>T	XP_011509254.1:p.Arg1518Ter