Canonical Allele Identifier: CA721212400

Gene:

Linked Data

• dbSNP Id: rs1488681413
• gnomAD v3: 16-49108511-A-T
• gnomAD v4: 16-49108511-A-T
• MyVariant Identifiers: chr16:g.49142422A>T (hg19) ; chr16:g.49108511A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108511A>T , CM000678.2:g.49108511A>T	GRCh38
NC_000016.9:g.49142422A>T , CM000678.1:g.49142422A>T	GRCh37
NC_000016.8:g.47699923A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1433T>A
XR_001752138.2:n.591+5465T>A
XR_933517.2:n.810+1433T>A