Canonical Allele Identifier: CA1139019656

Gene:

Linked Data

• gnomAD v3: Y-8606087-A-C
• gnomAD v4: Y-8606087-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8606087A>C , CM000686.2:g.8606087A>C	GRCh38
NC_000024.9:g.8474128A>C , CM000686.1:g.8474128A>C	GRCh37
NC_000024.8:g.8534128A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624507.1:c.53-1056T>G	ENSP00000485522.1:n.53-1056T>G
ENST00000624593.1:c.92+16765T>G	ENSP00000485106.1:n.92+16765T>G