Canonical Allele Identifier: CA2091417

Gene: ABCA12

Linked Data

• dbSNP Id: rs775655198
• ExAC: 2:215845270 C / T
• gnomAD v2: 2-215845270-C-T
• gnomAD v4: 2-214980546-C-T
• MyVariant Identifiers: chr2:g.215845270C>T (hg19) ; chr2:g.214980546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980546C>T , CM000664.2:g.214980546C>T	GRCh38
NC_000002.11:g.215845270C>T , CM000664.1:g.215845270C>T	GRCh37
NC_000002.10:g.215553515C>T	NCBI36
NG_007074.1:g.162882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4677G>A MANE Select	ENSP00000272895.7:p.Gly1559=
ENST00000272895.11:c.4677G>A	ENSP00000272895.7:p.Gly1559=
ENST00000389661.4:c.3723G>A	ENSP00000374312.4:p.Gly1241=
NM_015657.3:c.3723G>A	NP_056472.2:p.Gly1241=
NM_173076.2:c.4677G>A	NP_775099.2:p.Gly1559=
NR_103740.1:n.4977G>A
XM_011510951.1:c.4686G>A	XP_011509253.1:p.Gly1562=
XM_011510952.1:c.4686G>A	XP_011509254.1:p.Gly1562=
XM_011510951.2:c.4686G>A	XP_011509253.1:p.Gly1562=
NM_173076.3:c.4677G>A MANE Select	NP_775099.2:p.Gly1559=
NR_103740.2:n.5175G>A
NM_015657.4:c.3723G>A	NP_056472.2:p.Gly1241=