Canonical Allele Identifier: CA1139019641

Gene:

Linked Data

• gnomAD v3: Y-8606058-T-G
• gnomAD v4: Y-8606058-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8606058T>G , CM000686.2:g.8606058T>G	GRCh38
NC_000024.9:g.8474099T>G , CM000686.1:g.8474099T>G	GRCh37
NC_000024.8:g.8534099T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624507.1:c.53-1027A>C	ENSP00000485522.1:n.53-1027A>C
ENST00000624593.1:c.92+16794A>C	ENSP00000485106.1:n.92+16794A>C