Canonical Allele Identifier: CA350447346

Gene: ABCA12

Linked Data

• dbSNP Id: rs1700578641
• MyVariant Identifiers: chr2:g.215884268C>T (hg19) ; chr2:g.215019544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019544C>T , CM000664.2:g.215019544C>T	GRCh38
NC_000002.11:g.215884268C>T , CM000664.1:g.215884268C>T	GRCh37
NC_000002.10:g.215592513C>T	NCBI36
NG_007074.1:g.123884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1540G>A MANE Select	ENSP00000272895.7:p.Asp514Asn
ENST00000272895.11:c.1540G>A	ENSP00000272895.7:p.Asp514Asn
ENST00000389661.4:c.586G>A	ENSP00000374312.4:p.Asp196Asn
NM_015657.3:c.586G>A	NP_056472.2:p.Asp196Asn
NM_173076.2:c.1540G>A	NP_775099.2:p.Asp514Asn
NR_103740.1:n.1784G>A
XM_011510951.1:c.1540G>A	XP_011509253.1:p.Asp514Asn
XM_011510952.1:c.1540G>A	XP_011509254.1:p.Asp514Asn
XM_011510951.2:c.1540G>A	XP_011509253.1:p.Asp514Asn
NM_173076.3:c.1540G>A MANE Select	NP_775099.2:p.Asp514Asn
NR_103740.2:n.1982G>A
NM_015657.4:c.586G>A	NP_056472.2:p.Asp196Asn