Canonical Allele Identifier: CA350447733

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019673-G-C
• MyVariant Identifiers: chr2:g.215884397G>C (hg19) ; chr2:g.215019673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019673G>C , CM000664.2:g.215019673G>C	GRCh38
NC_000002.11:g.215884397G>C , CM000664.1:g.215884397G>C	GRCh37
NC_000002.10:g.215592642G>C	NCBI36
NG_007074.1:g.123755C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1411C>G MANE Select	ENSP00000272895.7:p.Leu471Val
ENST00000272895.11:c.1411C>G	ENSP00000272895.7:p.Leu471Val
ENST00000389661.4:c.457C>G	ENSP00000374312.4:p.Leu153Val
NM_015657.3:c.457C>G	NP_056472.2:p.Leu153Val
NM_173076.2:c.1411C>G	NP_775099.2:p.Leu471Val
NR_103740.1:n.1655C>G
XM_011510951.1:c.1411C>G	XP_011509253.1:p.Leu471Val
XM_011510952.1:c.1411C>G	XP_011509254.1:p.Leu471Val
XM_011510951.2:c.1411C>G	XP_011509253.1:p.Leu471Val
NM_173076.3:c.1411C>G MANE Select	NP_775099.2:p.Leu471Val
NR_103740.2:n.1853C>G
NM_015657.4:c.457C>G	NP_056472.2:p.Leu153Val