Canonical Allele Identifier: CA371914797
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.119122382T>C (hg19) chr8:g.118110143T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110143T>C , CM000670.2:g.118110143T>C GRCh38
NC_000008.10:g.119122382T>C , CM000670.1:g.119122382T>C GRCh37
NC_000008.9:g.119191563T>C NCBI36
NG_007455.2:g.6677A>G , LRG_493:g.6677A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.904A>G MANE Select ENSP00000367446.3:p.Lys302Glu
ENST00000436216.2:c.272A>G
ENST00000378204.6:c.904A>G ENSP00000367446.2:p.Lys302Glu
ENST00000436216.1:c.272A>G
ENST00000437196.1:c.73+831A>G ENSP00000407299.1:n.73+831A>G
NM_000127.2:c.904A>G , LRG_493t1:c.904A>G NP_000118.2:p.Lys302Glu
NM_000127.3:c.904A>G MANE Select NP_000118.2:p.Lys302Glu
Search 100 bp 5'
Search 100 bp 3'