Canonical Allele Identifier: CA1813957389
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837146G= , CM000670.2:g.117837146G= GRCh38
NC_000008.10:g.118849385G= , CM000670.1:g.118849385G= GRCh37
NC_000008.9:g.118918566G= NCBI36
NG_007455.2:g.279674C= , LRG_493:g.279674C=

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.485C=
ENST00000378204.7:c.1018C= MANE Select ENSP00000367446.3:p.Arg340=
ENST00000436216.2:c.386C=
ENST00000378204.6:c.1018C= ENSP00000367446.2:p.Arg340=
ENST00000436216.1:c.386C=
ENST00000437196.1:c.74-1595C= ENSP00000407299.1:n.74-1595C=
NM_000127.2:c.1018C= , LRG_493t1:c.1018C= NP_000118.2:p.Arg340=
NM_000127.3:c.1018C= MANE Select NP_000118.2:p.Arg340=