Canonical Allele Identifier: CA350447956

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019766-G-T
• MyVariant Identifiers: chr2:g.215884490G>T (hg19) ; chr2:g.215019766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019766G>T , CM000664.2:g.215019766G>T	GRCh38
NC_000002.11:g.215884490G>T , CM000664.1:g.215884490G>T	GRCh37
NC_000002.10:g.215592735G>T	NCBI36
NG_007074.1:g.123662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1318C>A MANE Select	ENSP00000272895.7:p.Leu440Ile
ENST00000272895.11:c.1318C>A	ENSP00000272895.7:p.Leu440Ile
ENST00000389661.4:c.364C>A	ENSP00000374312.4:p.Leu122Ile
NM_015657.3:c.364C>A	NP_056472.2:p.Leu122Ile
NM_173076.2:c.1318C>A	NP_775099.2:p.Leu440Ile
NR_103740.1:n.1562C>A
XM_011510951.1:c.1318C>A	XP_011509253.1:p.Leu440Ile
XM_011510952.1:c.1318C>A	XP_011509254.1:p.Leu440Ile
XM_011510951.2:c.1318C>A	XP_011509253.1:p.Leu440Ile
NM_173076.3:c.1318C>A MANE Select	NP_775099.2:p.Leu440Ile
NR_103740.2:n.1760C>A
NM_015657.4:c.364C>A	NP_056472.2:p.Leu122Ile