Canonical Allele Identifier: CA2688347689
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111847-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111847C>A , CM000670.2:g.118111847C>A GRCh38
NC_000008.10:g.119124086C>A , CM000670.1:g.119124086C>A GRCh37
NC_000008.9:g.119193267C>A NCBI36
NG_007455.2:g.4973G>T , LRG_493:g.4973G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.6:c.-801G>T ENSP00000367446.2:n.-801G>T
Search 100 bp 5'
Search 100 bp 3'