Canonical Allele Identifier: CA319675917
Gene:

Linked Data

dbSNP Id: rs1043792613
gnomAD v2: 21-28696435-G-A
gnomAD v3: 21-27324116-G-A
gnomAD v4: 21-27324116-G-A
MyVariant Identifiers: chr21:g.28696435G>A (hg19) chr21:g.27324116G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.27324116G>A , CM000683.2:g.27324116G>A GRCh38
NC_000021.8:g.28696435G>A , CM000683.1:g.28696435G>A GRCh37
NC_000021.7:g.27618306G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430359.2:n.834+26383C>T
XR_937629.1:n.834+26383C>T
XR_937630.1:n.834+26383C>T
XR_430359.3:n.847+26383C>T
XR_937629.2:n.847+26383C>T
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