Canonical Allele Identifier: CA2781908698
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111409C>G , CM000670.2:g.118111409C>G GRCh38
NC_000008.10:g.119123648C>G , CM000670.1:g.119123648C>G GRCh37
NC_000008.9:g.119192829C>G NCBI36
NG_007455.2:g.5411G>C , LRG_493:g.5411G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-363G>C MANE Select ENSP00000367446.3:n.-363G>C
ENST00000378204.6:c.-363G>C ENSP00000367446.2:n.-363G>C
NM_000127.2:c.-363G>C , LRG_493t1:c.-363G>C NP_000118.2:n.-363G>C
NM_000127.3:c.-363G>C MANE Select NP_000118.2:n.-363G>C
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