Canonical Allele Identifier: CA1813957388
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837145C= , CM000670.2:g.117837145C= GRCh38
NC_000008.10:g.118849384C= , CM000670.1:g.118849384C= GRCh37
NC_000008.9:g.118918565C= NCBI36
NG_007455.2:g.279675G= , LRG_493:g.279675G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.486G=
ENST00000378204.7:c.1019G= MANE Select ENSP00000367446.3:p.Arg340=
ENST00000436216.2:c.387G=
ENST00000378204.6:c.1019G= ENSP00000367446.2:p.Arg340=
ENST00000436216.1:c.387G=
ENST00000437196.1:c.74-1594G= ENSP00000407299.1:n.74-1594G=
NM_000127.2:c.1019G= , LRG_493t1:c.1019G= NP_000118.2:p.Arg340=
NM_000127.3:c.1019G= MANE Select NP_000118.2:p.Arg340=