Canonical Allele Identifier: CA2662986006
Gene: ABCA12 HGNC NCBI

Linked Data

gnomAD v4: 2-215064026-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064026T>G , CM000664.2:g.215064026T>G GRCh38
NC_000002.11:g.215928749T>G , CM000664.1:g.215928749T>G GRCh37
NC_000002.10:g.215636994T>G NCBI36
NG_007074.1:g.79403A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.317+40A>C MANE Select ENSP00000272895.7:n.317+40A>C
ENST00000272895.11:c.317+40A>C ENSP00000272895.7:n.317+40A>C
NM_173076.2:c.317+40A>C NP_775099.2:n.317+40A>C
NR_103740.1:n.537+40A>C
XM_011510951.1:c.317+40A>C XP_011509253.1:n.317+40A>C
XM_011510952.1:c.317+40A>C XP_011509254.1:n.317+40A>C
XM_011510951.2:c.317+40A>C XP_011509253.1:n.317+40A>C
NM_173076.3:c.317+40A>C MANE Select NP_775099.2:n.317+40A>C
NR_103740.2:n.735+40A>C
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