Canonical Allele Identifier: CA2577234578
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214944942T>G , CM000664.2:g.214944942T>G GRCh38
NC_000002.11:g.215809666T>G , CM000664.1:g.215809666T>G GRCh37
NC_000002.10:g.215517911T>G NCBI36
NG_007074.1:g.198486A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7343+59A>C (ABCA12) MANE Select ENSP00000272895.7:n.7343+59A>C
ENST00000272895.11:c.7343+59A>C (ABCA12) ENSP00000272895.7:n.7343+59A>C
ENST00000389661.4:c.6389+59A>C (ABCA12) ENSP00000374312.4:n.6389+59A>C
NM_015657.3:c.6389+59A>C (ABCA12) NP_056472.2:n.6389+59A>C
NM_173076.2:c.7343+59A>C (ABCA12) NP_775099.2:n.7343+59A>C
NR_103740.1:n.7643+59A>C (ABCA12)
NR_110292.1:n.322-2883T>G (SNHG31)
XM_011510951.1:c.7352+59A>C (ABCA12) XP_011509253.1:n.7352+59A>C
XM_011510951.2:c.7352+59A>C (ABCA12) XP_011509253.1:n.7352+59A>C
NM_173076.3:c.7343+59A>C (ABCA12) MANE Select NP_775099.2:n.7343+59A>C
NR_103740.2:n.7841+59A>C (ABCA12)
NM_015657.4:c.6389+59A>C (ABCA12) NP_056472.2:n.6389+59A>C
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