Canonical Allele Identifier: CA371892714
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429353
ClinVar RCV Id: RCV000494520 RCV001856960
dbSNP Id: rs1131691337
MyVariant Identifiers: chr8:g.118847777G>C (hg19) chr8:g.117835538G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835538G>C , CM000670.2:g.117835538G>C GRCh38
NC_000008.10:g.118847777G>C , CM000670.1:g.118847777G>C GRCh37
NC_000008.9:g.118916958G>C NCBI36
NG_007455.2:g.281282C>G , LRG_493:g.281282C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.537C>G
ENST00000378204.7:c.1070C>G MANE Select ENSP00000367446.3:p.Pro357Arg
ENST00000436216.2:c.438C>G
ENST00000378204.6:c.1070C>G ENSP00000367446.2:p.Pro357Arg
ENST00000436216.1:c.438C>G
ENST00000437196.1:c.87C>G ENSP00000407299.1:p.Pro29=
NM_000127.2:c.1070C>G , LRG_493t1:c.1070C>G NP_000118.2:p.Pro357Arg
NM_000127.3:c.1070C>G MANE Select NP_000118.2:p.Pro357Arg
Search 100 bp 5'
Search 100 bp 3'