Canonical Allele Identifier: CA1814090448
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111438A= , CM000670.2:g.118111438A= GRCh38
NC_000008.10:g.119123677A= , CM000670.1:g.119123677A= GRCh37
NC_000008.9:g.119192858A= NCBI36
NG_007455.2:g.5382T= , LRG_493:g.5382T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-392T= MANE Select ENSP00000367446.3:n.-392T=
ENST00000378204.6:c.-392T= ENSP00000367446.2:n.-392T=
NM_000127.2:c.-392T= , LRG_493t1:c.-392T= NP_000118.2:n.-392T=
NM_000127.3:c.-392T= MANE Select NP_000118.2:n.-392T=