Canonical Allele Identifier: CA350468071

Gene: ABCA12

Linked Data

• dbSNP Id: rs1411002556
• gnomAD v4: 2-214990707-A-T
• MyVariant Identifiers: chr2:g.215855431A>T (hg19) ; chr2:g.214990707A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990707A>T , CM000664.2:g.214990707A>T	GRCh38
NC_000002.11:g.215855431A>T , CM000664.1:g.215855431A>T	GRCh37
NC_000002.10:g.215563676A>T	NCBI36
NG_007074.1:g.152721T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.3619T>A MANE Select	ENSP00000272895.7:p.Phe1207Ile
ENST00000272895.11:c.3619T>A	ENSP00000272895.7:p.Phe1207Ile
ENST00000389661.4:c.2665T>A	ENSP00000374312.4:p.Phe889Ile
NM_015657.3:c.2665T>A	NP_056472.2:p.Phe889Ile
NM_173076.2:c.3619T>A	NP_775099.2:p.Phe1207Ile
NR_103740.1:n.3919T>A
XM_011510951.1:c.3619T>A	XP_011509253.1:p.Phe1207Ile
XM_011510952.1:c.3619T>A	XP_011509254.1:p.Phe1207Ile
XM_011510951.2:c.3619T>A	XP_011509253.1:p.Phe1207Ile
NM_173076.3:c.3619T>A MANE Select	NP_775099.2:p.Phe1207Ile
NR_103740.2:n.4117T>A
NM_015657.4:c.2665T>A	NP_056472.2:p.Phe889Ile