Canonical Allele Identifier: CA127628875
Gene:

Linked Data

dbSNP Id: rs144990720
gnomAD v3: 5-129387112-A-T
gnomAD v4: 5-129387112-A-T
MyVariant Identifiers: chr5:g.128722805A>T (hg19) chr5:g.129387112A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129387112A>T , CM000667.2:g.129387112A>T GRCh38
NC_000005.9:g.128722805A>T , CM000667.1:g.128722805A>T GRCh37
NC_000005.8:g.128750704A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427770.2:n.163-1336A>T
XR_948774.1:n.235-5539A>T
XR_001742463.1:n.4089-1336A>T
XR_001742464.1:n.2019-5539A>T
XR_001742465.1:n.401-1336A>T
XR_427770.3:n.337-1336A>T
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