Canonical Allele Identifier: CA371892811
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1300462534

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835548C>T , CM000670.2:g.117835548C>T GRCh38
NC_000008.10:g.118847787C>T , CM000670.1:g.118847787C>T GRCh37
NC_000008.9:g.118916968C>T NCBI36
NG_007455.2:g.281272G>A , LRG_493:g.281272G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.527G>A
ENST00000378204.7:c.1060G>A MANE Select ENSP00000367446.3:p.Ala354Thr
ENST00000436216.2:c.428G>A
ENST00000378204.6:c.1060G>A ENSP00000367446.2:p.Ala354Thr
ENST00000436216.1:c.428G>A
ENST00000437196.1:c.77G>A ENSP00000407299.1:p.Cys26Tyr
NM_000127.2:c.1060G>A , LRG_493t1:c.1060G>A NP_000118.2:p.Ala354Thr
NM_000127.3:c.1060G>A MANE Select NP_000118.2:p.Ala354Thr