Canonical Allele Identifier: CA2610262401
Gene:

Linked Data

gnomAD v4: 10-94762571-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762571G>C , CM000672.2:g.94762571G>C GRCh38
NC_000010.10:g.96522328G>C , CM000672.1:g.96522328G>C GRCh37
NC_000010.9:g.96512318G>C NCBI36
NG_008384.2:g.4866G>C
NG_008384.3:g.4891G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000464755.1:c.932-12487G>C ENSP00000483243.1:n.932-12487G>C
Search 100 bp 5'
Search 100 bp 3'