Canonical Allele Identifier: CA350447374

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215884275T>A (hg19) ; chr2:g.215019551T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019551T>A , CM000664.2:g.215019551T>A	GRCh38
NC_000002.11:g.215884275T>A , CM000664.1:g.215884275T>A	GRCh37
NC_000002.10:g.215592520T>A	NCBI36
NG_007074.1:g.123877A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1533A>T MANE Select	ENSP00000272895.7:p.Leu511Phe
ENST00000272895.11:c.1533A>T	ENSP00000272895.7:p.Leu511Phe
ENST00000389661.4:c.579A>T	ENSP00000374312.4:p.Leu193Phe
NM_015657.3:c.579A>T	NP_056472.2:p.Leu193Phe
NM_173076.2:c.1533A>T	NP_775099.2:p.Leu511Phe
NR_103740.1:n.1777A>T
XM_011510951.1:c.1533A>T	XP_011509253.1:p.Leu511Phe
XM_011510952.1:c.1533A>T	XP_011509254.1:p.Leu511Phe
XM_011510951.2:c.1533A>T	XP_011509253.1:p.Leu511Phe
NM_173076.3:c.1533A>T MANE Select	NP_775099.2:p.Leu511Phe
NR_103740.2:n.1975A>T
NM_015657.4:c.579A>T	NP_056472.2:p.Leu193Phe