Canonical Allele Identifier: CA1814090460
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111453G= , CM000670.2:g.118111453G= GRCh38
NC_000008.10:g.119123692G= , CM000670.1:g.119123692G= GRCh37
NC_000008.9:g.119192873G= NCBI36
NG_007455.2:g.5367C= , LRG_493:g.5367C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-407C= MANE Select ENSP00000367446.3:n.-407C=
ENST00000378204.6:c.-407C= ENSP00000367446.2:n.-407C=
NM_000127.2:c.-407C= , LRG_493t1:c.-407C= NP_000118.2:n.-407C=
NM_000127.3:c.-407C= MANE Select NP_000118.2:n.-407C=
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