Canonical Allele Identifier: CA2577235657
Gene: ABCA12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064045A>C , CM000664.2:g.215064045A>C GRCh38
NC_000002.11:g.215928768A>C , CM000664.1:g.215928768A>C GRCh37
NC_000002.10:g.215637013A>C NCBI36
NG_007074.1:g.79384T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.317+21T>G MANE Select ENSP00000272895.7:n.317+21T>G
ENST00000272895.11:c.317+21T>G ENSP00000272895.7:n.317+21T>G
NM_173076.2:c.317+21T>G NP_775099.2:n.317+21T>G
NR_103740.1:n.537+21T>G
XM_011510951.1:c.317+21T>G XP_011509253.1:n.317+21T>G
XM_011510952.1:c.317+21T>G XP_011509254.1:n.317+21T>G
XM_011510951.2:c.317+21T>G XP_011509253.1:n.317+21T>G
NM_173076.3:c.317+21T>G MANE Select NP_775099.2:n.317+21T>G
NR_103740.2:n.735+21T>G
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