Canonical Allele Identifier: CA2662974100
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

gnomAD v4: 2-214932586-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932586C>A , CM000664.2:g.214932586C>A GRCh38
NC_000002.11:g.215797310C>A , CM000664.1:g.215797310C>A GRCh37
NC_000002.10:g.215505555C>A NCBI36
NG_007074.1:g.210842G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.*48G>T (ABCA12) MANE Select ENSP00000272895.7:n.*48G>T
ENST00000272895.11:c.*48G>T (ABCA12) ENSP00000272895.7:n.*48G>T
NM_015657.3:c.*48G>T (ABCA12) NP_056472.2:n.*48G>T
NM_173076.2:c.*48G>T (ABCA12) NP_775099.2:n.*48G>T
NR_103740.1:n.8136G>T (ABCA12)
NR_110292.1:n.322-15239C>A (SNHG31)
XM_011510951.1:c.*48G>T (ABCA12) XP_011509253.1:n.*48G>T
XM_011510951.2:c.*48G>T (ABCA12) XP_011509253.1:n.*48G>T
NM_173076.3:c.*48G>T (ABCA12) MANE Select NP_775099.2:n.*48G>T
NR_103740.2:n.8334G>T (ABCA12)
NM_015657.4:c.*48G>T (ABCA12) NP_056472.2:n.*48G>T
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