Canonical Allele Identifier: CA2570621307
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111786G>A , CM000670.2:g.118111786G>A GRCh38
NC_000008.10:g.119124025G>A , CM000670.1:g.119124025G>A GRCh37
NC_000008.9:g.119193206G>A NCBI36
NG_007455.2:g.5034C>T , LRG_493:g.5034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-740C>T MANE Select ENSP00000367446.3:n.-740C>T
ENST00000378204.6:c.-740C>T ENSP00000367446.2:n.-740C>T
NM_000127.2:c.-740C>T , LRG_493t1:c.-740C>T NP_000118.2:n.-740C>T
NM_000127.3:c.-740C>T MANE Select NP_000118.2:n.-740C>T
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