Canonical Allele Identifier: CA371891892
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1180708
ClinVar RCV Id: RCV001814437
dbSNP Id: rs2129786203
MyVariant Identifiers: chr8:g.118847697T>A (hg19) chr8:g.117835458T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835458T>A , CM000670.2:g.117835458T>A GRCh38
NC_000008.10:g.118847697T>A , CM000670.1:g.118847697T>A GRCh37
NC_000008.9:g.118916878T>A NCBI36
NG_007455.2:g.281362A>T , LRG_493:g.281362A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.617A>T
ENST00000378204.7:c.1150A>T MANE Select ENSP00000367446.3:p.Arg384Ter
ENST00000436216.2:c.518A>T
ENST00000378204.6:c.1150A>T ENSP00000367446.2:p.Arg384Ter
ENST00000436216.1:c.518A>T
ENST00000437196.1:c.*41A>T ENSP00000407299.1:n.*41A>T
NM_000127.2:c.1150A>T , LRG_493t1:c.1150A>T NP_000118.2:p.Arg384Ter
NM_000127.3:c.1150A>T MANE Select NP_000118.2:p.Arg384Ter
Search 100 bp 5'
Search 100 bp 3'