Canonical Allele Identifier: CA371914945

Gene: EXT1

Linked Data

• ClinVar Variation Id: 2011960
• ClinVar RCV Id: RCV002856119
• MyVariant Identifiers: chr8:g.119122448T>A (hg19) ; chr8:g.118110209T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110209T>A , CM000670.2:g.118110209T>A	GRCh38
NC_000008.10:g.119122448T>A , CM000670.1:g.119122448T>A	GRCh37
NC_000008.9:g.119191629T>A	NCBI36
NG_007455.2:g.6611A>T , LRG_493:g.6611A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.838A>T MANE Select	ENSP00000367446.3:p.Arg280Trp
ENST00000436216.2:c.206A>T
ENST00000378204.6:c.838A>T	ENSP00000367446.2:p.Arg280Trp
ENST00000436216.1:c.206A>T
ENST00000437196.1:c.73+765A>T	ENSP00000407299.1:n.73+765A>T
NM_000127.2:c.838A>T , LRG_493t1:c.838A>T	NP_000118.2:p.Arg280Trp
NM_000127.3:c.838A>T MANE Select	NP_000118.2:p.Arg280Trp