Canonical Allele Identifier: CA1813915713
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807281C= , CM000670.2:g.117807281C= GRCh38
NC_000008.10:g.118819520C= , CM000670.1:g.118819520C= GRCh37
NC_000008.9:g.118888701C= NCBI36
NG_007455.2:g.309539G= , LRG_493:g.309539G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1286G=
ENST00000378204.7:c.1819G= MANE Select ENSP00000367446.3:p.Gly607=
ENST00000378204.6:c.1819G= ENSP00000367446.2:p.Gly607=
ENST00000437196.1:c.*710G= ENSP00000407299.1:n.*710G=
NM_000127.2:c.1819G= , LRG_493t1:c.1819G= NP_000118.2:p.Gly607=
NM_000127.3:c.1819G= MANE Select NP_000118.2:p.Gly607=