Canonical Allele Identifier: CA371893403
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837200A>T , CM000670.2:g.117837200A>T GRCh38
NC_000008.10:g.118849439A>T , CM000670.1:g.118849439A>T GRCh37
NC_000008.9:g.118918620A>T NCBI36
NG_007455.2:g.279620T>A , LRG_493:g.279620T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.431T>A
ENST00000378204.7:c.964T>A MANE Select ENSP00000367446.3:p.Tyr322Asn
ENST00000436216.2:c.332T>A
ENST00000378204.6:c.964T>A ENSP00000367446.2:p.Tyr322Asn
ENST00000436216.1:c.332T>A
ENST00000437196.1:c.74-1649T>A ENSP00000407299.1:n.74-1649T>A
NM_000127.2:c.964T>A , LRG_493t1:c.964T>A NP_000118.2:p.Tyr322Asn
NM_000127.3:c.964T>A MANE Select NP_000118.2:p.Tyr322Asn