Canonical Allele Identifier: CA371892287
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835494T>C , CM000670.2:g.117835494T>C GRCh38
NC_000008.10:g.118847733T>C , CM000670.1:g.118847733T>C GRCh37
NC_000008.9:g.118916914T>C NCBI36
NG_007455.2:g.281326A>G , LRG_493:g.281326A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.581A>G
ENST00000378204.7:c.1114A>G MANE Select ENSP00000367446.3:p.Ile372Val
ENST00000436216.2:c.482A>G
ENST00000378204.6:c.1114A>G ENSP00000367446.2:p.Ile372Val
ENST00000436216.1:c.482A>G
ENST00000437196.1:c.*5A>G ENSP00000407299.1:n.*5A>G
NM_000127.2:c.1114A>G , LRG_493t1:c.1114A>G NP_000118.2:p.Ile372Val
NM_000127.3:c.1114A>G MANE Select NP_000118.2:p.Ile372Val