Canonical Allele Identifier: CA371878000
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1980658
ClinVar RCV Id: RCV002761510
MyVariant Identifiers: chr8:g.118819487T>C (hg19) chr8:g.117807248T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807248T>C , CM000670.2:g.117807248T>C GRCh38
NC_000008.10:g.118819487T>C , CM000670.1:g.118819487T>C GRCh37
NC_000008.9:g.118888668T>C NCBI36
NG_007455.2:g.309572A>G , LRG_493:g.309572A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1319A>G
ENST00000378204.7:c.1852A>G MANE Select ENSP00000367446.3:p.Met618Val
ENST00000378204.6:c.1852A>G ENSP00000367446.2:p.Met618Val
ENST00000437196.1:c.*743A>G ENSP00000407299.1:n.*743A>G
NM_000127.2:c.1852A>G , LRG_493t1:c.1852A>G NP_000118.2:p.Met618Val
NM_000127.3:c.1852A>G MANE Select NP_000118.2:p.Met618Val
Search 100 bp 5'
Search 100 bp 3'