Canonical Allele Identifier: CA2607395362
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

dbSNP Id: rs543926668
gnomAD v3: 2-214932576-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932576G>A , CM000664.2:g.214932576G>A GRCh38
NC_000002.11:g.215797300G>A , CM000664.1:g.215797300G>A GRCh37
NC_000002.10:g.215505545G>A NCBI36
NG_007074.1:g.210852C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.*58C>T (ABCA12) MANE Select ENSP00000272895.7:n.*58C>T
ENST00000272895.11:c.*58C>T (ABCA12) ENSP00000272895.7:n.*58C>T
NM_015657.3:c.*58C>T (ABCA12) NP_056472.2:n.*58C>T
NM_173076.2:c.*58C>T (ABCA12) NP_775099.2:n.*58C>T
NR_103740.1:n.8146C>T (ABCA12)
NR_110292.1:n.322-15249G>A (SNHG31)
XM_011510951.1:c.*58C>T (ABCA12) XP_011509253.1:n.*58C>T
XM_011510951.2:c.*58C>T (ABCA12) XP_011509253.1:n.*58C>T
NM_173076.3:c.*58C>T (ABCA12) MANE Select NP_775099.2:n.*58C>T
NR_103740.2:n.8344C>T (ABCA12)
NM_015657.4:c.*58C>T (ABCA12) NP_056472.2:n.*58C>T
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