Canonical Allele Identifier: CA350458328
Gene: ABCA12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215928843C>G (hg19) chr2:g.215064120C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064120C>G , CM000664.2:g.215064120C>G GRCh38
NC_000002.11:g.215928843C>G , CM000664.1:g.215928843C>G GRCh37
NC_000002.10:g.215637088C>G NCBI36
NG_007074.1:g.79309G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.263G>C MANE Select ENSP00000272895.7:p.Gly88Ala
ENST00000272895.11:c.263G>C ENSP00000272895.7:p.Gly88Ala
NM_173076.2:c.263G>C NP_775099.2:p.Gly88Ala
NR_103740.1:n.483G>C
XM_011510951.1:c.263G>C XP_011509253.1:p.Gly88Ala
XM_011510952.1:c.263G>C XP_011509254.1:p.Gly88Ala
XM_011510951.2:c.263G>C XP_011509253.1:p.Gly88Ala
NM_173076.3:c.263G>C MANE Select NP_775099.2:p.Gly88Ala
NR_103740.2:n.681G>C
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