Canonical Allele Identifier: CA560796664

Gene:

Linked Data

• dbSNP Id: rs1368584745
• gnomAD v2: 5-91518755-T-C
• MyVariant Identifiers: chr5:g.91518755T>C (hg19) ; chr5:g.92222938T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222938T>C , CM000667.2:g.92222938T>C	GRCh38
NC_000005.9:g.91518755T>C , CM000667.1:g.91518755T>C	GRCh37
NC_000005.8:g.91554511T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948565.1:n.394+18254T>C