Canonical Allele Identifier: CA350461078

Gene: ABCA12

Linked Data

• dbSNP Id: rs13401480
• gnomAD v3: 2-214980587-G-T
• gnomAD v4: 2-214980587-G-T
• MyVariant Identifiers: chr2:g.215845311G>T (hg19) ; chr2:g.214980587G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980587G>T , CM000664.2:g.214980587G>T	GRCh38
NC_000002.11:g.215845311G>T , CM000664.1:g.215845311G>T	GRCh37
NC_000002.10:g.215553556G>T	NCBI36
NG_007074.1:g.162841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4636C>A MANE Select	ENSP00000272895.7:p.Arg1546Ser
ENST00000272895.11:c.4636C>A	ENSP00000272895.7:p.Arg1546Ser
ENST00000389661.4:c.3682C>A	ENSP00000374312.4:p.Arg1228Ser
NM_015657.3:c.3682C>A	NP_056472.2:p.Arg1228Ser
NM_173076.2:c.4636C>A	NP_775099.2:p.Arg1546Ser
NR_103740.1:n.4936C>A
XM_011510951.1:c.4645C>A	XP_011509253.1:p.Arg1549Ser
XM_011510952.1:c.4645C>A	XP_011509254.1:p.Arg1549Ser
XM_011510951.2:c.4645C>A	XP_011509253.1:p.Arg1549Ser
NM_173076.3:c.4636C>A MANE Select	NP_775099.2:p.Arg1546Ser
NR_103740.2:n.5134C>A
NM_015657.4:c.3682C>A	NP_056472.2:p.Arg1228Ser