Canonical Allele Identifier: CA1813956705
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835518A= , CM000670.2:g.117835518A= GRCh38
NC_000008.10:g.118847757A= , CM000670.1:g.118847757A= GRCh37
NC_000008.9:g.118916938A= NCBI36
NG_007455.2:g.281302T= , LRG_493:g.281302T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.557T=
ENST00000378204.7:c.1090T= MANE Select ENSP00000367446.3:p.Trp364=
ENST00000436216.2:c.458T=
ENST00000378204.6:c.1090T= ENSP00000367446.2:p.Trp364=
ENST00000436216.1:c.458T=
ENST00000437196.1:c.107T= ENSP00000407299.1:p.Met36=
NM_000127.2:c.1090T= , LRG_493t1:c.1090T= NP_000118.2:p.Trp364=
NM_000127.3:c.1090T= MANE Select NP_000118.2:p.Trp364=