Canonical Allele Identifier: CA2591004510

Gene:

Linked Data

• gnomAD v3: 21-43168986-C-A
• gnomAD v4: 21-43168986-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168986C>A , CM000683.2:g.43168986C>A	GRCh38
NG_009823.1:g.4956C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2051G>T