Canonical Allele Identifier: CA560796666

Gene:

Linked Data

• dbSNP Id: rs949328772
• gnomAD v2: 5-91518819-G-A
• gnomAD v3: 5-92223002-G-A
• gnomAD v4: 5-92223002-G-A
• MyVariant Identifiers: chr5:g.91518819G>A (hg19) ; chr5:g.92223002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92223002G>A , CM000667.2:g.92223002G>A	GRCh38
NC_000005.9:g.91518819G>A , CM000667.1:g.91518819G>A	GRCh37
NC_000005.8:g.91554575G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948565.1:n.394+18318G>A