Canonical Allele Identifier: CA127231999
Gene:

Linked Data

dbSNP Id: rs887342271
gnomAD v3: 5-126002787-G-T
gnomAD v4: 5-126002787-G-T
MyVariant Identifiers: chr5:g.126002787G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002787G>T , CM000667.2:g.126002787G>T GRCh38
NC_000005.9:g.125338480G>T , CM000667.1:g.125338480G>T GRCh37
NC_000005.8:g.125366379G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3553C>A
XR_948738.1:n.497+5753C>A
Search 100 bp 5'
Search 100 bp 3'