Canonical Allele Identifier: CA1327140951

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1698089671
• gnomAD v4: 2-214932502-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932502C>G , CM000664.2:g.214932502C>G	GRCh38
NC_000002.11:g.215797226C>G , CM000664.1:g.215797226C>G	GRCh37
NC_000002.10:g.215505471C>G	NCBI36
NG_007074.1:g.210926G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*132G>C (ABCA12) MANE Select	ENSP00000272895.7:n.*132G>C
ENST00000272895.11:c.*132G>C (ABCA12)	ENSP00000272895.7:n.*132G>C
NM_015657.3:c.*132G>C (ABCA12)	NP_056472.2:n.*132G>C
NM_173076.2:c.*132G>C (ABCA12)	NP_775099.2:n.*132G>C
NR_103740.1:n.8220G>C (ABCA12)
NR_110292.1:n.322-15323C>G (SNHG31)
XM_011510951.1:c.*132G>C (ABCA12)	XP_011509253.1:n.*132G>C
XM_011510951.2:c.*132G>C (ABCA12)	XP_011509253.1:n.*132G>C
NM_173076.3:c.*132G>C (ABCA12) MANE Select	NP_775099.2:n.*132G>C
NR_103740.2:n.8418G>C (ABCA12)
NM_015657.4:c.*132G>C (ABCA12)	NP_056472.2:n.*132G>C