Canonical Allele Identifier: CA963063572

Gene:

Linked Data

• gnomAD v3: 14-50856876-A-C
• gnomAD v4: 14-50856876-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50856876A>C , CM000676.2:g.50856876A>C	GRCh38
NC_000014.8:g.51323594A>C , CM000676.1:g.51323594A>C	GRCh37
NC_000014.7:g.50393344A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943848.1:n.282+1222T>G
XR_943848.2:n.643+1222T>G