Canonical Allele Identifier: CA4854241
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361658
dbSNP Id: rs61753260

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835542C>T , CM000670.2:g.117835542C>T GRCh38
NC_000008.10:g.118847781C>T , CM000670.1:g.118847781C>T GRCh37
NC_000008.9:g.118916962C>T NCBI36
NG_007455.2:g.281278G>A , LRG_493:g.281278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.533G>A
ENST00000378204.7:c.1066G>A MANE Select ENSP00000367446.3:p.Val356Ile
ENST00000436216.2:c.434G>A
ENST00000378204.6:c.1066G>A ENSP00000367446.2:p.Val356Ile
ENST00000436216.1:c.434G>A
ENST00000437196.1:c.83G>A ENSP00000407299.1:p.Arg28His
NM_000127.2:c.1066G>A , LRG_493t1:c.1066G>A NP_000118.2:p.Val356Ile
NM_000127.3:c.1066G>A MANE Select NP_000118.2:p.Val356Ile