Canonical Allele Identifier: CA2662974090
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

gnomAD v4: 2-214932572-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932572C>A , CM000664.2:g.214932572C>A GRCh38
NC_000002.11:g.215797296C>A , CM000664.1:g.215797296C>A GRCh37
NC_000002.10:g.215505541C>A NCBI36
NG_007074.1:g.210856G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.*62G>T (ABCA12) MANE Select ENSP00000272895.7:n.*62G>T
ENST00000272895.11:c.*62G>T (ABCA12) ENSP00000272895.7:n.*62G>T
NM_015657.3:c.*62G>T (ABCA12) NP_056472.2:n.*62G>T
NM_173076.2:c.*62G>T (ABCA12) NP_775099.2:n.*62G>T
NR_103740.1:n.8150G>T (ABCA12)
NR_110292.1:n.322-15253C>A (SNHG31)
XM_011510951.1:c.*62G>T (ABCA12) XP_011509253.1:n.*62G>T
XM_011510951.2:c.*62G>T (ABCA12) XP_011509253.1:n.*62G>T
NM_173076.3:c.*62G>T (ABCA12) MANE Select NP_775099.2:n.*62G>T
NR_103740.2:n.8348G>T (ABCA12)
NM_015657.4:c.*62G>T (ABCA12) NP_056472.2:n.*62G>T
Search 100 bp 5'
Search 100 bp 3'