Canonical Allele Identifier: CA243103
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196214
ClinVar RCV Id: RCV000176987
dbSNP Id: rs747020325
gnomAD v4: 8-117835470-T-A
MyVariant Identifiers: chr8:g.118847709T>A (hg19) chr8:g.117835470T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835470T>A , CM000670.2:g.117835470T>A GRCh38
NC_000008.10:g.118847709T>A , CM000670.1:g.118847709T>A GRCh37
NC_000008.9:g.118916890T>A NCBI36
NG_007455.2:g.281350A>T , LRG_493:g.281350A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.605A>T
ENST00000378204.7:c.1138A>T MANE Select ENSP00000367446.3:p.Ile380Leu
ENST00000436216.2:c.506A>T
ENST00000378204.6:c.1138A>T ENSP00000367446.2:p.Ile380Leu
ENST00000436216.1:c.506A>T
ENST00000437196.1:c.*29A>T ENSP00000407299.1:n.*29A>T
NM_000127.2:c.1138A>T , LRG_493t1:c.1138A>T NP_000118.2:p.Ile380Leu
NM_000127.3:c.1138A>T MANE Select NP_000118.2:p.Ile380Leu
Search 100 bp 5'
Search 100 bp 3'