Canonical Allele Identifier: CA350458290
Gene: ABCA12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215928837T>G (hg19) chr2:g.215064114T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064114T>G , CM000664.2:g.215064114T>G GRCh38
NC_000002.11:g.215928837T>G , CM000664.1:g.215928837T>G GRCh37
NC_000002.10:g.215637082T>G NCBI36
NG_007074.1:g.79315A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.269A>C MANE Select ENSP00000272895.7:p.Gln90Pro
ENST00000272895.11:c.269A>C ENSP00000272895.7:p.Gln90Pro
NM_173076.2:c.269A>C NP_775099.2:p.Gln90Pro
NR_103740.1:n.489A>C
XM_011510951.1:c.269A>C XP_011509253.1:p.Gln90Pro
XM_011510952.1:c.269A>C XP_011509254.1:p.Gln90Pro
XM_011510951.2:c.269A>C XP_011509253.1:p.Gln90Pro
NM_173076.3:c.269A>C MANE Select NP_775099.2:p.Gln90Pro
NR_103740.2:n.687A>C
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