Canonical Allele Identifier: CA2595815232

Gene:

Linked Data

• gnomAD v3: 1-34523550-A-G
• gnomAD v4: 1-34523550-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34523550A>G , CM000663.2:g.34523550A>G	GRCh38
NC_000001.10:g.34989151A>G , CM000663.1:g.34989151A>G	GRCh37
NC_000001.9:g.34761738A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_947171.1:n.1073+24029T>C
XR_001737964.1:n.991+24029T>C