Canonical Allele Identifier: CA371891863
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1073473
ClinVar RCV Id: RCV001386492
dbSNP Id: rs2129786157
MyVariant Identifiers: chr8:g.118847690A>C (hg19) chr8:g.117835451A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835451A>C , CM000670.2:g.117835451A>C GRCh38
NC_000008.10:g.118847690A>C , CM000670.1:g.118847690A>C GRCh37
NC_000008.9:g.118916871A>C NCBI36
NG_007455.2:g.281369T>G , LRG_493:g.281369T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.624T>G
ENST00000378204.7:c.1157T>G MANE Select ENSP00000367446.3:p.Leu386Ter
ENST00000436216.2:c.525T>G
ENST00000378204.6:c.1157T>G ENSP00000367446.2:p.Leu386Ter
ENST00000436216.1:c.525T>G
ENST00000437196.1:c.*48T>G ENSP00000407299.1:n.*48T>G
NM_000127.2:c.1157T>G , LRG_493t1:c.1157T>G NP_000118.2:p.Leu386Ter
NM_000127.3:c.1157T>G MANE Select NP_000118.2:p.Leu386Ter
Search 100 bp 5'
Search 100 bp 3'