Canonical Allele Identifier: CA350447473

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215884305C>G (hg19) ; chr2:g.215019581C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019581C>G , CM000664.2:g.215019581C>G	GRCh38
NC_000002.11:g.215884305C>G , CM000664.1:g.215884305C>G	GRCh37
NC_000002.10:g.215592550C>G	NCBI36
NG_007074.1:g.123847G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1503G>C MANE Select	ENSP00000272895.7:p.Leu501Phe
ENST00000272895.11:c.1503G>C	ENSP00000272895.7:p.Leu501Phe
ENST00000389661.4:c.549G>C	ENSP00000374312.4:p.Leu183Phe
NM_015657.3:c.549G>C	NP_056472.2:p.Leu183Phe
NM_173076.2:c.1503G>C	NP_775099.2:p.Leu501Phe
NR_103740.1:n.1747G>C
XM_011510951.1:c.1503G>C	XP_011509253.1:p.Leu501Phe
XM_011510952.1:c.1503G>C	XP_011509254.1:p.Leu501Phe
XM_011510951.2:c.1503G>C	XP_011509253.1:p.Leu501Phe
NM_173076.3:c.1503G>C MANE Select	NP_775099.2:p.Leu501Phe
NR_103740.2:n.1945G>C
NM_015657.4:c.549G>C	NP_056472.2:p.Leu183Phe