Canonical Allele Identifier: CA64814840

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2628525
• ClinVar RCV Id: RCV003399481
• dbSNP Id: rs1028455057
• gnomAD v3: 2-214980526-T-C
• gnomAD v4: 2-214980526-T-C
• MyVariant Identifiers: chr2:g.215845250T>C (hg19) ; chr2:g.214980526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980526T>C , CM000664.2:g.214980526T>C	GRCh38
NC_000002.11:g.215845250T>C , CM000664.1:g.215845250T>C	GRCh37
NC_000002.10:g.215553495T>C	NCBI36
NG_007074.1:g.162902A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4697A>G MANE Select	ENSP00000272895.7:p.Glu1566Gly
ENST00000272895.11:c.4697A>G	ENSP00000272895.7:p.Glu1566Gly
ENST00000389661.4:c.3743A>G	ENSP00000374312.4:p.Glu1248Gly
NM_015657.3:c.3743A>G	NP_056472.2:p.Glu1248Gly
NM_173076.2:c.4697A>G	NP_775099.2:p.Glu1566Gly
NR_103740.1:n.4997A>G
XM_011510951.1:c.4706A>G	XP_011509253.1:p.Glu1569Gly
XM_011510952.1:c.4706A>G	XP_011509254.1:p.Glu1569Gly
XM_011510951.2:c.4706A>G	XP_011509253.1:p.Glu1569Gly
NM_173076.3:c.4697A>G MANE Select	NP_775099.2:p.Glu1566Gly
NR_103740.2:n.5195A>G
NM_015657.4:c.3743A>G	NP_056472.2:p.Glu1248Gly