Canonical Allele Identifier: CA1813950015
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117820087T= , CM000670.2:g.117820087T= GRCh38
NC_000008.10:g.118832326T= , CM000670.1:g.118832326T= GRCh37
NC_000008.9:g.118901507T= NCBI36
NG_007455.2:g.296733A= , LRG_493:g.296733A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-293A=
ENST00000378204.7:c.1418-293A= MANE Select ENSP00000367446.3:n.1418-293A=
ENST00000378204.6:c.1418-293A= ENSP00000367446.2:n.1418-293A=
ENST00000437196.1:c.*309-293A= ENSP00000407299.1:n.*309-293A=
NM_000127.2:c.1418-293A= , LRG_493t1:c.1418-293A= NP_000118.2:n.1418-293A=
NM_000127.3:c.1418-293A= MANE Select NP_000118.2:n.1418-293A=
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