Canonical Allele Identifier: CA371878173
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 955338
ClinVar RCV Id: RCV001227957
dbSNP Id: rs1823253013
MyVariant Identifiers: chr8:g.118819520C>A (hg19) chr8:g.117807281C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807281C>A , CM000670.2:g.117807281C>A GRCh38
NC_000008.10:g.118819520C>A , CM000670.1:g.118819520C>A GRCh37
NC_000008.9:g.118888701C>A NCBI36
NG_007455.2:g.309539G>T , LRG_493:g.309539G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1286G>T
ENST00000378204.7:c.1819G>T MANE Select ENSP00000367446.3:p.Gly607Ter
ENST00000378204.6:c.1819G>T ENSP00000367446.2:p.Gly607Ter
ENST00000437196.1:c.*710G>T ENSP00000407299.1:n.*710G>T
NM_000127.2:c.1819G>T , LRG_493t1:c.1819G>T NP_000118.2:p.Gly607Ter
NM_000127.3:c.1819G>T MANE Select NP_000118.2:p.Gly607Ter
Search 100 bp 5'
Search 100 bp 3'