Canonical Allele Identifier: CA1814090715
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111690C= , CM000670.2:g.118111690C= GRCh38
NC_000008.10:g.119123929C= , CM000670.1:g.119123929C= GRCh37
NC_000008.9:g.119193110C= NCBI36
NG_007455.2:g.5130G= , LRG_493:g.5130G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-644G= MANE Select ENSP00000367446.3:n.-644G=
ENST00000378204.6:c.-644G= ENSP00000367446.2:n.-644G=
NM_000127.2:c.-644G= , LRG_493t1:c.-644G= NP_000118.2:n.-644G=
NM_000127.3:c.-644G= MANE Select NP_000118.2:n.-644G=
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