Canonical Allele Identifier: CA309668970

Gene:

Linked Data

• dbSNP Id: rs1007811994
• gnomAD v3: 19-50837584-G-C
• gnomAD v4: 19-50837584-G-C
• MyVariant Identifiers: chr19:g.51340840G>C (hg19) ; chr19:g.50837584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837584G>C , CM000681.2:g.50837584G>C	GRCh38
NC_000019.9:g.51340840G>C , CM000681.1:g.51340840G>C	GRCh37
NC_000019.8:g.56032652G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6291G>C
NR_131205.1:n.230+6291G>C
XR_936030.1:n.298+6291G>C
XR_936031.1:n.298+6291G>C
XR_936032.1:n.298+6291G>C
XR_936033.1:n.294+6291G>C
XR_936035.1:n.281+6291G>C