Canonical Allele Identifier: CA280996458
Gene:

Linked Data

dbSNP Id: rs1040181571
gnomAD v3: 16-49108618-A-T
gnomAD v4: 16-49108618-A-T
MyVariant Identifiers: chr16:g.49142529A>T (hg19) chr16:g.49108618A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108618A>T , CM000678.2:g.49108618A>T GRCh38
NC_000016.9:g.49142529A>T , CM000678.1:g.49142529A>T GRCh37
NC_000016.8:g.47700030A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_933517.1:n.810+1326T>A
XR_001752138.2:n.591+5358T>A
XR_933517.2:n.810+1326T>A
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