Canonical Allele Identifier: CA2662974097
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

gnomAD v4: 2-214932577-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932577G>T , CM000664.2:g.214932577G>T GRCh38
NC_000002.11:g.215797301G>T , CM000664.1:g.215797301G>T GRCh37
NC_000002.10:g.215505546G>T NCBI36
NG_007074.1:g.210851C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.*57C>A (ABCA12) MANE Select ENSP00000272895.7:n.*57C>A
ENST00000272895.11:c.*57C>A (ABCA12) ENSP00000272895.7:n.*57C>A
NM_015657.3:c.*57C>A (ABCA12) NP_056472.2:n.*57C>A
NM_173076.2:c.*57C>A (ABCA12) NP_775099.2:n.*57C>A
NR_103740.1:n.8145C>A (ABCA12)
NR_110292.1:n.322-15248G>T (SNHG31)
XM_011510951.1:c.*57C>A (ABCA12) XP_011509253.1:n.*57C>A
XM_011510951.2:c.*57C>A (ABCA12) XP_011509253.1:n.*57C>A
NM_173076.3:c.*57C>A (ABCA12) MANE Select NP_775099.2:n.*57C>A
NR_103740.2:n.8343C>A (ABCA12)
NM_015657.4:c.*57C>A (ABCA12) NP_056472.2:n.*57C>A
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