Canonical Allele Identifier: CA371893246
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.118849364A>C (hg19) chr8:g.117837125A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837125A>C , CM000670.2:g.117837125A>C GRCh38
NC_000008.10:g.118849364A>C , CM000670.1:g.118849364A>C GRCh37
NC_000008.9:g.118918545A>C NCBI36
NG_007455.2:g.279695T>G , LRG_493:g.279695T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.506T>G
ENST00000378204.7:c.1039T>G MANE Select ENSP00000367446.3:p.Phe347Val
ENST00000436216.2:c.407T>G
ENST00000378204.6:c.1039T>G ENSP00000367446.2:p.Phe347Val
ENST00000436216.1:c.407T>G
ENST00000437196.1:c.74-1574T>G ENSP00000407299.1:n.74-1574T>G
NM_000127.2:c.1039T>G , LRG_493t1:c.1039T>G NP_000118.2:p.Phe347Val
NM_000127.3:c.1039T>G MANE Select NP_000118.2:p.Phe347Val
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