Canonical Allele Identifier: CA805749808

Gene:

Linked Data

• dbSNP Id: rs1240301318
• gnomAD v3: 5-152354506-C-A
• gnomAD v4: 5-152354506-C-A
• MyVariant Identifiers: chr5:g.151734067C>A (hg19) ; chr5:g.152354506C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354506C>A , CM000667.2:g.152354506C>A	GRCh38
NC_000005.9:g.151734067C>A , CM000667.1:g.151734067C>A	GRCh37
NC_000005.8:g.151714260C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_944433.1:n.196+16643C>A
XR_944433.2:n.197+16643C>A