Canonical Allele Identifier: CA2688347693
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111850-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111850A>G , CM000670.2:g.118111850A>G GRCh38
NC_000008.10:g.119124089A>G , CM000670.1:g.119124089A>G GRCh37
NC_000008.9:g.119193270A>G NCBI36
NG_007455.2:g.4970T>C , LRG_493:g.4970T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.6:c.-804T>C ENSP00000367446.2:n.-804T>C
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