Canonical Allele Identifier: CA371892847
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1457777
ClinVar RCV Id: RCV001949329
dbSNP Id: rs1587003662
MyVariant Identifiers: chr8:g.118847792T>A (hg19) chr8:g.117835553T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835553T>A , CM000670.2:g.117835553T>A GRCh38
NC_000008.10:g.118847792T>A , CM000670.1:g.118847792T>A GRCh37
NC_000008.9:g.118916973T>A NCBI36
NG_007455.2:g.281267A>T , LRG_493:g.281267A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.524-2A>T
ENST00000378204.7:c.1057-2A>T MANE Select ENSP00000367446.3:n.1057-2A>T
ENST00000436216.2:c.425-2A>T
ENST00000378204.6:c.1057-2A>T ENSP00000367446.2:n.1057-2A>T
ENST00000436216.1:c.425-2A>T
ENST00000437196.1:c.74-2A>T ENSP00000407299.1:n.74-2A>T
NM_000127.2:c.1057-2A>T , LRG_493t1:c.1057-2A>T NP_000118.2:n.1057-2A>T
NM_000127.3:c.1057-2A>T MANE Select NP_000118.2:n.1057-2A>T
Search 100 bp 5'
Search 100 bp 3'