Canonical Allele Identifier: CA748339808
Gene:

Linked Data

dbSNP Id: rs1220111864
gnomAD v3: 21-27324125-T-G
gnomAD v4: 21-27324125-T-G
MyVariant Identifiers: chr21:g.28696444T>G (hg19) chr21:g.27324125T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.27324125T>G , CM000683.2:g.27324125T>G GRCh38
NC_000021.8:g.28696444T>G , CM000683.1:g.28696444T>G GRCh37
NC_000021.7:g.27618315T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430359.2:n.834+26374A>C
XR_937629.1:n.834+26374A>C
XR_937630.1:n.834+26374A>C
XR_430359.3:n.847+26374A>C
XR_937629.2:n.847+26374A>C
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