Canonical Allele Identifier: CA1813956687
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835470T= , CM000670.2:g.117835470T= GRCh38
NC_000008.10:g.118847709T= , CM000670.1:g.118847709T= GRCh37
NC_000008.9:g.118916890T= NCBI36
NG_007455.2:g.281350A= , LRG_493:g.281350A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.605A=
ENST00000378204.7:c.1138A= MANE Select ENSP00000367446.3:p.Ile380=
ENST00000436216.2:c.506A=
ENST00000378204.6:c.1138A= ENSP00000367446.2:p.Ile380=
ENST00000436216.1:c.506A=
ENST00000437196.1:c.*29A= ENSP00000407299.1:n.*29A=
NM_000127.2:c.1138A= , LRG_493t1:c.1138A= NP_000118.2:p.Ile380=
NM_000127.3:c.1138A= MANE Select NP_000118.2:p.Ile380=