Canonical Allele Identifier: CA1814090933
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1301828089
gnomAD v3: 8-118111829-C-T
gnomAD v4: 8-118111829-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111829C>T , CM000670.2:g.118111829C>T GRCh38
NC_000008.10:g.119124068C>T , CM000670.1:g.119124068C>T GRCh37
NC_000008.9:g.119193249C>T NCBI36
NG_007455.2:g.4991G>A , LRG_493:g.4991G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.6:c.-783G>A ENSP00000367446.2:n.-783G>A
Search 100 bp 5'
Search 100 bp 3'