Canonical Allele Identifier: CA371878294
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807302C>A , CM000670.2:g.117807302C>A GRCh38
NC_000008.10:g.118819541C>A , CM000670.1:g.118819541C>A GRCh37
NC_000008.9:g.118888722C>A NCBI36
NG_007455.2:g.309518G>T , LRG_493:g.309518G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1265G>T
ENST00000378204.7:c.1798G>T MANE Select ENSP00000367446.3:p.Asp600Tyr
ENST00000378204.6:c.1798G>T ENSP00000367446.2:p.Asp600Tyr
ENST00000437196.1:c.*689G>T ENSP00000407299.1:n.*689G>T
NM_000127.2:c.1798G>T , LRG_493t1:c.1798G>T NP_000118.2:p.Asp600Tyr
NM_000127.3:c.1798G>T MANE Select NP_000118.2:p.Asp600Tyr