Canonical Allele Identifier: CA65501416

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs569267261
• gnomAD v3: 2-214932553-T-A
• gnomAD v4: 2-214932553-T-A
• MyVariant Identifiers: chr2:g.215797277T>A (hg19) ; chr2:g.214932553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932553T>A , CM000664.2:g.214932553T>A	GRCh38
NC_000002.11:g.215797277T>A , CM000664.1:g.215797277T>A	GRCh37
NC_000002.10:g.215505522T>A	NCBI36
NG_007074.1:g.210875A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.*81A>T (ABCA12) MANE Select	ENSP00000272895.7:n.*81A>T
ENST00000272895.11:c.*81A>T (ABCA12)	ENSP00000272895.7:n.*81A>T
NM_015657.3:c.*81A>T (ABCA12)	NP_056472.2:n.*81A>T
NM_173076.2:c.*81A>T (ABCA12)	NP_775099.2:n.*81A>T
NR_103740.1:n.8169A>T (ABCA12)
NR_110292.1:n.322-15272T>A (SNHG31)
XM_011510951.1:c.*81A>T (ABCA12)	XP_011509253.1:n.*81A>T
XM_011510951.2:c.*81A>T (ABCA12)	XP_011509253.1:n.*81A>T
NM_173076.3:c.*81A>T (ABCA12) MANE Select	NP_775099.2:n.*81A>T
NR_103740.2:n.8367A>T (ABCA12)
NM_015657.4:c.*81A>T (ABCA12)	NP_056472.2:n.*81A>T