Canonical Allele Identifier: CA2577235656
Gene: ABCA12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064036C>A , CM000664.2:g.215064036C>A GRCh38
NC_000002.11:g.215928759C>A , CM000664.1:g.215928759C>A GRCh37
NC_000002.10:g.215637004C>A NCBI36
NG_007074.1:g.79393G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.317+30G>T MANE Select ENSP00000272895.7:n.317+30G>T
ENST00000272895.11:c.317+30G>T ENSP00000272895.7:n.317+30G>T
NM_173076.2:c.317+30G>T NP_775099.2:n.317+30G>T
NR_103740.1:n.537+30G>T
XM_011510951.1:c.317+30G>T XP_011509253.1:n.317+30G>T
XM_011510952.1:c.317+30G>T XP_011509254.1:n.317+30G>T
XM_011510951.2:c.317+30G>T XP_011509253.1:n.317+30G>T
NM_173076.3:c.317+30G>T MANE Select NP_775099.2:n.317+30G>T
NR_103740.2:n.735+30G>T
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