Canonical Allele Identifier: CA371892637
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835527T>A , CM000670.2:g.117835527T>A GRCh38
NC_000008.10:g.118847766T>A , CM000670.1:g.118847766T>A GRCh37
NC_000008.9:g.118916947T>A NCBI36
NG_007455.2:g.281293A>T , LRG_493:g.281293A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.548A>T
ENST00000378204.7:c.1081A>T MANE Select ENSP00000367446.3:p.Ser361Cys
ENST00000436216.2:c.449A>T
ENST00000378204.6:c.1081A>T ENSP00000367446.2:p.Ser361Cys
ENST00000436216.1:c.449A>T
ENST00000437196.1:c.98A>T ENSP00000407299.1:p.Gln33Leu
NM_000127.2:c.1081A>T , LRG_493t1:c.1081A>T NP_000118.2:p.Ser361Cys
NM_000127.3:c.1081A>T MANE Select NP_000118.2:p.Ser361Cys