Canonical Allele Identifier: CA184296611
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2887250
ClinVar RCV Id: RCV003602902
dbSNP Id: rs1028715003
gnomAD v4: 8-117835515-C-T
MyVariant Identifiers: chr8:g.118847754C>T (hg19) chr8:g.117835515C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835515C>T , CM000670.2:g.117835515C>T GRCh38
NC_000008.10:g.118847754C>T , CM000670.1:g.118847754C>T GRCh37
NC_000008.9:g.118916935C>T NCBI36
NG_007455.2:g.281305G>A , LRG_493:g.281305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.560G>A
ENST00000378204.7:c.1093G>A MANE Select ENSP00000367446.3:p.Glu365Lys
ENST00000436216.2:c.461G>A
ENST00000378204.6:c.1093G>A ENSP00000367446.2:p.Glu365Lys
ENST00000436216.1:c.461G>A
ENST00000437196.1:c.110G>A ENSP00000407299.1:p.Gly37Glu
NM_000127.2:c.1093G>A , LRG_493t1:c.1093G>A NP_000118.2:p.Glu365Lys
NM_000127.3:c.1093G>A MANE Select NP_000118.2:p.Glu365Lys
Search 100 bp 5'
Search 100 bp 3'