Canonical Allele Identifier: CA1138998293

Gene:

Linked Data

• gnomAD v3: Y-8556017-T-G
• gnomAD v4: Y-8556017-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8556017T>G , CM000686.2:g.8556017T>G	GRCh38
NC_000024.9:g.8424058T>G , CM000686.1:g.8424058T>G	GRCh37
NC_000024.8:g.8484058T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624593.1:c.*23-6222A>C	ENSP00000485106.1:n.*23-6222A>C