Canonical Allele Identifier: CA2781908706
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111603T>C , CM000670.2:g.118111603T>C GRCh38
NC_000008.10:g.119123842T>C , CM000670.1:g.119123842T>C GRCh37
NC_000008.9:g.119193023T>C NCBI36
NG_007455.2:g.5217A>G , LRG_493:g.5217A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-557A>G MANE Select ENSP00000367446.3:n.-557A>G
ENST00000378204.6:c.-557A>G ENSP00000367446.2:n.-557A>G
NM_000127.2:c.-557A>G , LRG_493t1:c.-557A>G NP_000118.2:n.-557A>G
NM_000127.3:c.-557A>G MANE Select NP_000118.2:n.-557A>G
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