Canonical Allele Identifier: CA371893291

Gene: EXT1

Linked Data

• ClinVar Variation Id: 2735203
• ClinVar RCV Id: RCV003499956
• MyVariant Identifiers: chr8:g.118849387C>A (hg19) ; chr8:g.117837148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837148C>A , CM000670.2:g.117837148C>A	GRCh38
NC_000008.10:g.118849387C>A , CM000670.1:g.118849387C>A	GRCh37
NC_000008.9:g.118918568C>A	NCBI36
NG_007455.2:g.279672G>T , LRG_493:g.279672G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.483G>T
ENST00000378204.7:c.1016G>T MANE Select	ENSP00000367446.3:p.Gly339Val
ENST00000436216.2:c.384G>T
ENST00000378204.6:c.1016G>T	ENSP00000367446.2:p.Gly339Val
ENST00000436216.1:c.384G>T
ENST00000437196.1:c.74-1597G>T	ENSP00000407299.1:n.74-1597G>T
NM_000127.2:c.1016G>T , LRG_493t1:c.1016G>T	NP_000118.2:p.Gly339Val
NM_000127.3:c.1016G>T MANE Select	NP_000118.2:p.Gly339Val