Canonical Allele Identifier: CA996828839

Gene:

Linked Data

• dbSNP Id: rs2090049445
• gnomAD v3: 19-50837347-G-A
• gnomAD v4: 19-50837347-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837347G>A , CM000681.2:g.50837347G>A	GRCh38
NC_000019.9:g.51340603G>A , CM000681.1:g.51340603G>A	GRCh37
NC_000019.8:g.56032415G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6054G>A
NR_131205.1:n.230+6054G>A
XR_936030.1:n.298+6054G>A
XR_936031.1:n.298+6054G>A
XR_936032.1:n.298+6054G>A
XR_936033.1:n.294+6054G>A
XR_936035.1:n.281+6054G>A