Canonical Allele Identifier: CA319675912
Gene:

Linked Data

dbSNP Id: rs550001936
gnomAD v3: 21-27324072-C-T
gnomAD v4: 21-27324072-C-T
MyVariant Identifiers: chr21:g.28696391C>T (hg19) chr21:g.27324072C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.27324072C>T , CM000683.2:g.27324072C>T GRCh38
NC_000021.8:g.28696391C>T , CM000683.1:g.28696391C>T GRCh37
NC_000021.7:g.27618262C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430359.2:n.834+26427G>A
XR_937629.1:n.834+26427G>A
XR_937630.1:n.834+26427G>A
XR_430359.3:n.847+26427G>A
XR_937629.2:n.847+26427G>A
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