Canonical Allele Identifier: CA815488017

Gene:

Linked Data

• dbSNP Id: rs1211576488
• gnomAD v3: 5-92222879-A-T
• gnomAD v4: 5-92222879-A-T
• MyVariant Identifiers: chr5:g.91518696A>T (hg19) ; chr5:g.92222879A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222879A>T , CM000667.2:g.92222879A>T	GRCh38
NC_000005.9:g.91518696A>T , CM000667.1:g.91518696A>T	GRCh37
NC_000005.8:g.91554452A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948565.1:n.394+18195A>T