Canonical Allele Identifier: CA371878539
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.118819585A>C (hg19) chr8:g.117807346A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807346A>C , CM000670.2:g.117807346A>C GRCh38
NC_000008.10:g.118819585A>C , CM000670.1:g.118819585A>C GRCh37
NC_000008.9:g.118888766A>C NCBI36
NG_007455.2:g.309474T>G , LRG_493:g.309474T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1221T>G
ENST00000378204.7:c.1754T>G MANE Select ENSP00000367446.3:p.Phe585Cys
ENST00000378204.6:c.1754T>G ENSP00000367446.2:p.Phe585Cys
ENST00000437196.1:c.*645T>G ENSP00000407299.1:n.*645T>G
NM_000127.2:c.1754T>G , LRG_493t1:c.1754T>G NP_000118.2:p.Phe585Cys
NM_000127.3:c.1754T>G MANE Select NP_000118.2:p.Phe585Cys
Search 100 bp 5'
Search 100 bp 3'