Canonical Allele Identifier: CA278115129

Gene:

Linked Data

• dbSNP Id: rs560554026
• gnomAD v2: 16-9343504-T-A
• gnomAD v3: 16-9249647-T-A
• gnomAD v4: 16-9249647-T-A
• MyVariant Identifiers: chr16:g.9343504T>A (hg19) ; chr16:g.9249647T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249647T>A , CM000678.2:g.9249647T>A	GRCh38
NC_000016.9:g.9343504T>A , CM000678.1:g.9343504T>A	GRCh37
NC_000016.8:g.9251005T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64914T>A