Canonical Allele Identifier: CA431147513

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215843666C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978942C>G , CM000664.2:g.214978942C>G	GRCh38
NC_000002.11:g.215843666C>G , CM000664.1:g.215843666C>G	GRCh37
NC_000002.10:g.215551911C>G	NCBI36
NG_007074.1:g.164486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4839G>C MANE Select	ENSP00000272895.7:p.Gly1613=
ENST00000272895.11:c.4839G>C	ENSP00000272895.7:p.Gly1613=
ENST00000389661.4:c.3885G>C	ENSP00000374312.4:p.Gly1295=
NM_015657.3:c.3885G>C	NP_056472.2:p.Gly1295=
NM_173076.2:c.4839G>C	NP_775099.2:p.Gly1613=
NR_103740.1:n.5139G>C
XM_011510951.1:c.4848G>C	XP_011509253.1:p.Gly1616=
XM_011510952.1:c.4848G>C	XP_011509254.1:p.Gly1616=
XM_011510951.2:c.4848G>C	XP_011509253.1:p.Gly1616=
NM_173076.3:c.4839G>C MANE Select	NP_775099.2:p.Gly1613=
NR_103740.2:n.5337G>C
NM_015657.4:c.3885G>C	NP_056472.2:p.Gly1295=