Canonical Allele Identifier: CA371914683
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.119122337T>C (hg19) chr8:g.118110098T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110098T>C , CM000670.2:g.118110098T>C GRCh38
NC_000008.10:g.119122337T>C , CM000670.1:g.119122337T>C GRCh37
NC_000008.9:g.119191518T>C NCBI36
NG_007455.2:g.6722A>G , LRG_493:g.6722A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.949A>G MANE Select ENSP00000367446.3:p.Thr317Ala
ENST00000436216.2:c.317A>G
ENST00000378204.6:c.949A>G ENSP00000367446.2:p.Thr317Ala
ENST00000436216.1:c.317A>G
ENST00000437196.1:c.73+876A>G ENSP00000407299.1:n.73+876A>G
NM_000127.2:c.949A>G , LRG_493t1:c.949A>G NP_000118.2:p.Thr317Ala
NM_000127.3:c.949A>G MANE Select NP_000118.2:p.Thr317Ala
Search 100 bp 5'
Search 100 bp 3'