Canonical Allele Identifier: CA2688347604
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs2130048047
gnomAD v4: 8-118111749-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111749G>T , CM000670.2:g.118111749G>T GRCh38
NC_000008.10:g.119123988G>T , CM000670.1:g.119123988G>T GRCh37
NC_000008.9:g.119193169G>T NCBI36
NG_007455.2:g.5071C>A , LRG_493:g.5071C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-703C>A MANE Select ENSP00000367446.3:n.-703C>A
ENST00000378204.6:c.-703C>A ENSP00000367446.2:n.-703C>A
NM_000127.2:c.-703C>A , LRG_493t1:c.-703C>A NP_000118.2:n.-703C>A
NM_000127.3:c.-703C>A MANE Select NP_000118.2:n.-703C>A
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