Canonical Allele Identifier: CA65501407

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs557747039
• gnomAD v4: 2-214932496-G-A
• MyVariant Identifiers: chr2:g.215797220G>A (hg19) ; chr2:g.214932496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932496G>A , CM000664.2:g.214932496G>A	GRCh38
NC_000002.11:g.215797220G>A , CM000664.1:g.215797220G>A	GRCh37
NC_000002.10:g.215505465G>A	NCBI36
NG_007074.1:g.210932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*138C>T (ABCA12) MANE Select	ENSP00000272895.7:n.*138C>T
ENST00000272895.11:c.*138C>T (ABCA12)	ENSP00000272895.7:n.*138C>T
NM_015657.3:c.*138C>T (ABCA12)	NP_056472.2:n.*138C>T
NM_173076.2:c.*138C>T (ABCA12)	NP_775099.2:n.*138C>T
NR_103740.1:n.8226C>T (ABCA12)
NR_110292.1:n.322-15329G>A (SNHG31)
XM_011510951.1:c.*138C>T (ABCA12)	XP_011509253.1:n.*138C>T
XM_011510951.2:c.*138C>T (ABCA12)	XP_011509253.1:n.*138C>T
NM_173076.3:c.*138C>T (ABCA12) MANE Select	NP_775099.2:n.*138C>T
NR_103740.2:n.8424C>T (ABCA12)
NM_015657.4:c.*138C>T (ABCA12)	NP_056472.2:n.*138C>T