Canonical Allele Identifier: CA14704775

Gene:

Linked Data

• dbSNP Id: rs73048483
• gnomAD v2: 19-51340543-G-A
• gnomAD v3: 19-50837287-G-A
• gnomAD v4: 19-50837287-G-A
• MyVariant Identifiers: chr19:g.51340543G>A (hg19) ; chr19:g.50837287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837287G>A , CM000681.2:g.50837287G>A	GRCh38
NC_000019.9:g.51340543G>A , CM000681.1:g.51340543G>A	GRCh37
NC_000019.8:g.56032355G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+5994G>A
NR_131205.1:n.230+5994G>A
XR_936030.1:n.298+5994G>A
XR_936031.1:n.298+5994G>A
XR_936032.1:n.298+5994G>A
XR_936033.1:n.294+5994G>A
XR_936035.1:n.281+5994G>A