Canonical Allele Identifier: CA371878184
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 842925
ClinVar RCV Id: RCV001045430
dbSNP Id: rs1823253080
MyVariant Identifiers: chr8:g.118819521C>T (hg19) chr8:g.117807282C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807282C>T , CM000670.2:g.117807282C>T GRCh38
NC_000008.10:g.118819521C>T , CM000670.1:g.118819521C>T GRCh37
NC_000008.9:g.118888702C>T NCBI36
NG_007455.2:g.309538G>A , LRG_493:g.309538G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1285G>A
ENST00000378204.7:c.1818G>A MANE Select ENSP00000367446.3:p.Trp606Ter
ENST00000378204.6:c.1818G>A ENSP00000367446.2:p.Trp606Ter
ENST00000437196.1:c.*709G>A ENSP00000407299.1:n.*709G>A
NM_000127.2:c.1818G>A , LRG_493t1:c.1818G>A NP_000118.2:p.Trp606Ter
NM_000127.3:c.1818G>A MANE Select NP_000118.2:p.Trp606Ter
Search 100 bp 5'
Search 100 bp 3'