Canonical Allele Identifier: CA10588451
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265126
ClinVar RCV Id: RCV000255528 RCV001859476
dbSNP Id: rs886039352
gnomAD v4: 8-118110244-C-T
MyVariant Identifiers: chr8:g.119122483C>T (hg19) chr8:g.118110244C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110244C>T , CM000670.2:g.118110244C>T GRCh38
NC_000008.10:g.119122483C>T , CM000670.1:g.119122483C>T GRCh37
NC_000008.9:g.119191664C>T NCBI36
NG_007455.2:g.6576G>A , LRG_493:g.6576G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.803G>A MANE Select ENSP00000367446.3:p.Gly268Glu
ENST00000436216.2:c.171G>A
ENST00000378204.6:c.803G>A ENSP00000367446.2:p.Gly268Glu
ENST00000436216.1:c.171G>A
ENST00000437196.1:c.73+730G>A ENSP00000407299.1:n.73+730G>A
NM_000127.2:c.803G>A , LRG_493t1:c.803G>A NP_000118.2:p.Gly268Glu
NM_000127.3:c.803G>A MANE Select NP_000118.2:p.Gly268Glu
Search 100 bp 5'
Search 100 bp 3'