Canonical Allele Identifier: CA371893236
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837121A>T , CM000670.2:g.117837121A>T GRCh38
NC_000008.10:g.118849360A>T , CM000670.1:g.118849360A>T GRCh37
NC_000008.9:g.118918541A>T NCBI36
NG_007455.2:g.279699T>A , LRG_493:g.279699T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.510T>A
ENST00000378204.7:c.1043T>A MANE Select ENSP00000367446.3:p.Leu348Gln
ENST00000436216.2:c.411T>A
ENST00000378204.6:c.1043T>A ENSP00000367446.2:p.Leu348Gln
ENST00000436216.1:c.411T>A
ENST00000437196.1:c.74-1570T>A ENSP00000407299.1:n.74-1570T>A
NM_000127.2:c.1043T>A , LRG_493t1:c.1043T>A NP_000118.2:p.Leu348Gln
NM_000127.3:c.1043T>A MANE Select NP_000118.2:p.Leu348Gln