Canonical Allele Identifier: CA278115114

Gene:

Linked Data

• dbSNP Id: rs538486927
• gnomAD v2: 16-9343390-G-A
• gnomAD v3: 16-9249533-G-A
• gnomAD v4: 16-9249533-G-A
• MyVariant Identifiers: chr16:g.9343390G>A (hg19) ; chr16:g.9249533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249533G>A , CM000678.2:g.9249533G>A	GRCh38
NC_000016.9:g.9343390G>A , CM000678.1:g.9343390G>A	GRCh37
NC_000016.8:g.9250891G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64800G>A