Canonical Allele Identifier: CA350483402

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011450-G-A
• MyVariant Identifiers: chr2:g.215876174G>A (hg19) ; chr2:g.215011450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011450G>A , CM000664.2:g.215011450G>A	GRCh38
NC_000002.11:g.215876174G>A , CM000664.1:g.215876174G>A	GRCh37
NC_000002.10:g.215584419G>A	NCBI36
NG_007074.1:g.131978C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2321C>T MANE Select	ENSP00000272895.7:p.Pro774Leu
ENST00000272895.11:c.2321C>T	ENSP00000272895.7:p.Pro774Leu
ENST00000389661.4:c.1367C>T	ENSP00000374312.4:p.Pro456Leu
NM_015657.3:c.1367C>T	NP_056472.2:p.Pro456Leu
NM_173076.2:c.2321C>T	NP_775099.2:p.Pro774Leu
NR_103740.1:n.2565C>T
XM_011510951.1:c.2321C>T	XP_011509253.1:p.Pro774Leu
XM_011510952.1:c.2321C>T	XP_011509254.1:p.Pro774Leu
XM_011510951.2:c.2321C>T	XP_011509253.1:p.Pro774Leu
NM_173076.3:c.2321C>T MANE Select	NP_775099.2:p.Pro774Leu
NR_103740.2:n.2763C>T
NM_015657.4:c.1367C>T	NP_056472.2:p.Pro456Leu