Canonical Allele Identifier: CA2662986010
Gene: ABCA12 HGNC NCBI

Linked Data

gnomAD v4: 2-215064048-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064048C>T , CM000664.2:g.215064048C>T GRCh38
NC_000002.11:g.215928771C>T , CM000664.1:g.215928771C>T GRCh37
NC_000002.10:g.215637016C>T NCBI36
NG_007074.1:g.79381G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.317+18G>A MANE Select ENSP00000272895.7:n.317+18G>A
ENST00000272895.11:c.317+18G>A ENSP00000272895.7:n.317+18G>A
NM_173076.2:c.317+18G>A NP_775099.2:n.317+18G>A
NR_103740.1:n.537+18G>A
XM_011510951.1:c.317+18G>A XP_011509253.1:n.317+18G>A
XM_011510952.1:c.317+18G>A XP_011509254.1:n.317+18G>A
XM_011510951.2:c.317+18G>A XP_011509253.1:n.317+18G>A
NM_173076.3:c.317+18G>A MANE Select NP_775099.2:n.317+18G>A
NR_103740.2:n.735+18G>A
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