Canonical Allele Identifier: CA806711217

Gene:

Linked Data

• dbSNP Id: rs1373254219
• gnomAD v3: 5-162656515-A-C
• gnomAD v4: 5-162656515-A-C
• MyVariant Identifiers: chr5:g.162083521A>C (hg19) ; chr5:g.162656515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656515A>C , CM000667.2:g.162656515A>C	GRCh38
NC_000005.9:g.162083521A>C , CM000667.1:g.162083521A>C	GRCh37
NC_000005.8:g.162016099A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3587T>G