Canonical Allele Identifier: CA431387394

Gene: ABCA12

Linked Data

• dbSNP Id: rs1199692390
• gnomAD v2: 2-215884329-G-T
• gnomAD v4: 2-215019605-G-T
• MyVariant Identifiers: chr2:g.215884329G>T (hg19) ; chr2:g.215019605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019605G>T , CM000664.2:g.215019605G>T	GRCh38
NC_000002.11:g.215884329G>T , CM000664.1:g.215884329G>T	GRCh37
NC_000002.10:g.215592574G>T	NCBI36
NG_007074.1:g.123823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1479C>A MANE Select	ENSP00000272895.7:p.Val493=
ENST00000272895.11:c.1479C>A	ENSP00000272895.7:p.Val493=
ENST00000389661.4:c.525C>A	ENSP00000374312.4:p.Val175=
NM_015657.3:c.525C>A	NP_056472.2:p.Val175=
NM_173076.2:c.1479C>A	NP_775099.2:p.Val493=
NR_103740.1:n.1723C>A
XM_011510951.1:c.1479C>A	XP_011509253.1:p.Val493=
XM_011510952.1:c.1479C>A	XP_011509254.1:p.Val493=
XM_011510951.2:c.1479C>A	XP_011509253.1:p.Val493=
NM_173076.3:c.1479C>A MANE Select	NP_775099.2:p.Val493=
NR_103740.2:n.1921C>A
NM_015657.4:c.525C>A	NP_056472.2:p.Val175=