Canonical Allele Identifier: CA350461657

Gene: ABCA12

Linked Data

• dbSNP Id: rs1699683235
• gnomAD v3: 2-214982214-A-T
• gnomAD v4: 2-214982214-A-T
• MyVariant Identifiers: chr2:g.215846938A>T (hg19) ; chr2:g.214982214A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214982214A>T , CM000664.2:g.214982214A>T	GRCh38
NC_000002.11:g.215846938A>T , CM000664.1:g.215846938A>T	GRCh37
NC_000002.10:g.215555183A>T	NCBI36
NG_007074.1:g.161214T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4552T>A MANE Select	ENSP00000272895.7:p.Trp1518Arg
ENST00000272895.11:c.4552T>A	ENSP00000272895.7:p.Trp1518Arg
ENST00000389661.4:c.3598T>A	ENSP00000374312.4:p.Trp1200Arg
NM_015657.3:c.3598T>A	NP_056472.2:p.Trp1200Arg
NM_173076.2:c.4552T>A	NP_775099.2:p.Trp1518Arg
NR_103740.1:n.4852T>A
XM_011510951.1:c.4561T>A	XP_011509253.1:p.Trp1521Arg
XM_011510952.1:c.4561T>A	XP_011509254.1:p.Trp1521Arg
XM_011510951.2:c.4561T>A	XP_011509253.1:p.Trp1521Arg
NM_173076.3:c.4552T>A MANE Select	NP_775099.2:p.Trp1518Arg
NR_103740.2:n.5050T>A
NM_015657.4:c.3598T>A	NP_056472.2:p.Trp1200Arg