Canonical Allele Identifier: CA2688347682
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111831-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111831G>T , CM000670.2:g.118111831G>T GRCh38
NC_000008.10:g.119124070G>T , CM000670.1:g.119124070G>T GRCh37
NC_000008.9:g.119193251G>T NCBI36
NG_007455.2:g.4989C>A , LRG_493:g.4989C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.6:c.-785C>A ENSP00000367446.2:n.-785C>A
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