Canonical Allele Identifier: CA309668965

Gene:

Linked Data

• dbSNP Id: rs955062118
• gnomAD v3: 19-50837577-C-T
• gnomAD v4: 19-50837577-C-T
• MyVariant Identifiers: chr19:g.51340833C>T (hg19) ; chr19:g.50837577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837577C>T , CM000681.2:g.50837577C>T	GRCh38
NC_000019.9:g.51340833C>T , CM000681.1:g.51340833C>T	GRCh37
NC_000019.8:g.56032645C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6284C>T
NR_131205.1:n.230+6284C>T
XR_936030.1:n.298+6284C>T
XR_936031.1:n.298+6284C>T
XR_936032.1:n.298+6284C>T
XR_936033.1:n.294+6284C>T
XR_936035.1:n.281+6284C>T