Canonical Allele Identifier: CA1813957306
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117836960T= , CM000670.2:g.117836960T= GRCh38
NC_000008.10:g.118849199T= , CM000670.1:g.118849199T= GRCh37
NC_000008.9:g.118918380T= NCBI36
NG_007455.2:g.279860A= , LRG_493:g.279860A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.523+148A=
ENST00000378204.7:c.1056+148A= MANE Select ENSP00000367446.3:n.1056+148A=
ENST00000436216.2:c.424+148A=
ENST00000378204.6:c.1056+148A= ENSP00000367446.2:n.1056+148A=
ENST00000436216.1:c.424+148A=
ENST00000437196.1:c.74-1409A= ENSP00000407299.1:n.74-1409A=
NM_000127.2:c.1056+148A= , LRG_493t1:c.1056+148A= NP_000118.2:n.1056+148A=
NM_000127.3:c.1056+148A= MANE Select NP_000118.2:n.1056+148A=
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