Canonical Allele Identifier: CA350483627

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215876274C>T (hg19) ; chr2:g.215011550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011550C>T , CM000664.2:g.215011550C>T	GRCh38
NC_000002.11:g.215876274C>T , CM000664.1:g.215876274C>T	GRCh37
NC_000002.10:g.215584519C>T	NCBI36
NG_007074.1:g.131878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2221G>A MANE Select	ENSP00000272895.7:p.Ala741Thr
ENST00000272895.11:c.2221G>A	ENSP00000272895.7:p.Ala741Thr
ENST00000389661.4:c.1267G>A	ENSP00000374312.4:p.Ala423Thr
NM_015657.3:c.1267G>A	NP_056472.2:p.Ala423Thr
NM_173076.2:c.2221G>A	NP_775099.2:p.Ala741Thr
NR_103740.1:n.2465G>A
XM_011510951.1:c.2221G>A	XP_011509253.1:p.Ala741Thr
XM_011510952.1:c.2221G>A	XP_011509254.1:p.Ala741Thr
XM_011510951.2:c.2221G>A	XP_011509253.1:p.Ala741Thr
NM_173076.3:c.2221G>A MANE Select	NP_775099.2:p.Ala741Thr
NR_103740.2:n.2663G>A
NM_015657.4:c.1267G>A	NP_056472.2:p.Ala423Thr