Canonical Allele Identifier: CA1813956743
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835589C= , CM000670.2:g.117835589C= GRCh38
NC_000008.10:g.118847828C= , CM000670.1:g.118847828C= GRCh37
NC_000008.9:g.118917009C= NCBI36
NG_007455.2:g.281231G= , LRG_493:g.281231G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.524-38G=
ENST00000378204.7:c.1057-38G= MANE Select ENSP00000367446.3:n.1057-38G=
ENST00000436216.2:c.425-38G=
ENST00000378204.6:c.1057-38G= ENSP00000367446.2:n.1057-38G=
ENST00000436216.1:c.425-38G=
ENST00000437196.1:c.74-38G= ENSP00000407299.1:n.74-38G=
NM_000127.2:c.1057-38G= , LRG_493t1:c.1057-38G= NP_000118.2:n.1057-38G=
NM_000127.3:c.1057-38G= MANE Select NP_000118.2:n.1057-38G=