Canonical Allele Identifier: CA2610262417
Gene:

Linked Data

gnomAD v4: 10-94762589-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762589C>T , CM000672.2:g.94762589C>T GRCh38
NC_000010.10:g.96522346C>T , CM000672.1:g.96522346C>T GRCh37
NC_000010.9:g.96512336C>T NCBI36
NG_008384.2:g.4884C>T
NG_008384.3:g.4909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-12469C>T ENSP00000483243.1:n.932-12469C>T
Search 100 bp 5'
Search 100 bp 3'