Canonical Allele Identifier: CA350461251

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980629-G-T
• MyVariant Identifiers: chr2:g.215845353G>T (hg19) ; chr2:g.214980629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980629G>T , CM000664.2:g.214980629G>T	GRCh38
NC_000002.11:g.215845353G>T , CM000664.1:g.215845353G>T	GRCh37
NC_000002.10:g.215553598G>T	NCBI36
NG_007074.1:g.162799C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4594C>A MANE Select	ENSP00000272895.7:p.Leu1532Met
ENST00000272895.11:c.4594C>A	ENSP00000272895.7:p.Leu1532Met
ENST00000389661.4:c.3640C>A	ENSP00000374312.4:p.Leu1214Met
NM_015657.3:c.3640C>A	NP_056472.2:p.Leu1214Met
NM_173076.2:c.4594C>A	NP_775099.2:p.Leu1532Met
NR_103740.1:n.4894C>A
XM_011510951.1:c.4603C>A	XP_011509253.1:p.Leu1535Met
XM_011510952.1:c.4603C>A	XP_011509254.1:p.Leu1535Met
XM_011510951.2:c.4603C>A	XP_011509253.1:p.Leu1535Met
NM_173076.3:c.4594C>A MANE Select	NP_775099.2:p.Leu1532Met
NR_103740.2:n.5092C>A
NM_015657.4:c.3640C>A	NP_056472.2:p.Leu1214Met