Canonical Allele Identifier: CA2091439

Gene: ABCA12

Linked Data

• dbSNP Id: rs761934025
• ExAC: 2:215845358 A / T
• gnomAD v2: 2-215845358-A-T
• gnomAD v4: 2-214980634-A-T
• MyVariant Identifiers: chr2:g.215845358A>T (hg19) ; chr2:g.214980634A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980634A>T , CM000664.2:g.214980634A>T	GRCh38
NC_000002.11:g.215845358A>T , CM000664.1:g.215845358A>T	GRCh37
NC_000002.10:g.215553603A>T	NCBI36
NG_007074.1:g.162794T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4589T>A MANE Select	ENSP00000272895.7:p.Ile1530Asn
ENST00000272895.11:c.4589T>A	ENSP00000272895.7:p.Ile1530Asn
ENST00000389661.4:c.3635T>A	ENSP00000374312.4:p.Ile1212Asn
NM_015657.3:c.3635T>A	NP_056472.2:p.Ile1212Asn
NM_173076.2:c.4589T>A	NP_775099.2:p.Ile1530Asn
NR_103740.1:n.4889T>A
XM_011510951.1:c.4598T>A	XP_011509253.1:p.Ile1533Asn
XM_011510952.1:c.4598T>A	XP_011509254.1:p.Ile1533Asn
XM_011510951.2:c.4598T>A	XP_011509253.1:p.Ile1533Asn
NM_173076.3:c.4589T>A MANE Select	NP_775099.2:p.Ile1530Asn
NR_103740.2:n.5087T>A
NM_015657.4:c.3635T>A	NP_056472.2:p.Ile1212Asn