Canonical Allele Identifier: CA1813957377
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837127C= , CM000670.2:g.117837127C= GRCh38
NC_000008.10:g.118849366C= , CM000670.1:g.118849366C= GRCh37
NC_000008.9:g.118918547C= NCBI36
NG_007455.2:g.279693G= , LRG_493:g.279693G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.504G=
ENST00000378204.7:c.1037G= MANE Select ENSP00000367446.3:p.Arg346=
ENST00000436216.2:c.405G=
ENST00000378204.6:c.1037G= ENSP00000367446.2:p.Arg346=
ENST00000436216.1:c.405G=
ENST00000437196.1:c.74-1576G= ENSP00000407299.1:n.74-1576G=
NM_000127.2:c.1037G= , LRG_493t1:c.1037G= NP_000118.2:p.Arg346=
NM_000127.3:c.1037G= MANE Select NP_000118.2:p.Arg346=