Canonical Allele Identifier: CA309525541

Gene:

Linked Data

• dbSNP Id: rs3810265
• gnomAD v2: 19-50223266-G-A
• gnomAD v3: 19-49720009-G-A
• gnomAD v4: 19-49720009-G-A
• MyVariant Identifiers: chr19:g.50223266G>A (hg19) ; chr19:g.49720009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49720009G>A , CM000681.2:g.49720009G>A	GRCh38
NC_000019.9:g.50223266G>A , CM000681.1:g.50223266G>A	GRCh37
NC_000019.8:g.54915078G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000498085.1:n.73C>T