Canonical Allele Identifier: CA319675913
Gene:

Linked Data

dbSNP Id: rs916596014
gnomAD v2: 21-28696394-G-A
MyVariant Identifiers: chr21:g.28696394G>A (hg19) chr21:g.27324075G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.27324075G>A , CM000683.2:g.27324075G>A GRCh38
NC_000021.8:g.28696394G>A , CM000683.1:g.28696394G>A GRCh37
NC_000021.7:g.27618265G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430359.2:n.834+26424C>T
XR_937629.1:n.834+26424C>T
XR_937630.1:n.834+26424C>T
XR_430359.3:n.847+26424C>T
XR_937629.2:n.847+26424C>T
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