Canonical Allele Identifier: CA2662973974

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214932373-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932373G>A , CM000664.2:g.214932373G>A	GRCh38
NC_000002.11:g.215797097G>A , CM000664.1:g.215797097G>A	GRCh37
NC_000002.10:g.215505342G>A	NCBI36
NG_007074.1:g.211055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*261C>T (ABCA12) MANE Select	ENSP00000272895.7:n.*261C>T
ENST00000272895.11:c.*261C>T (ABCA12)	ENSP00000272895.7:n.*261C>T
NM_015657.3:c.*261C>T (ABCA12)	NP_056472.2:n.*261C>T
NM_173076.2:c.*261C>T (ABCA12)	NP_775099.2:n.*261C>T
NR_103740.1:n.8349C>T (ABCA12)
NR_110292.1:n.322-15452G>A (SNHG31)
XM_011510951.1:c.*261C>T (ABCA12)	XP_011509253.1:n.*261C>T
XM_011510951.2:c.*261C>T (ABCA12)	XP_011509253.1:n.*261C>T
NM_173076.3:c.*261C>T (ABCA12) MANE Select	NP_775099.2:n.*261C>T
NR_103740.2:n.8547C>T (ABCA12)
NM_015657.4:c.*261C>T (ABCA12)	NP_056472.2:n.*261C>T