Canonical Allele Identifier: CA371892708

Gene: EXT1

Linked Data

• dbSNP Id: rs760043953
• MyVariant Identifiers: chr8:g.118847775C>T (hg19) ; chr8:g.117835536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835536C>T , CM000670.2:g.117835536C>T	GRCh38
NC_000008.10:g.118847775C>T , CM000670.1:g.118847775C>T	GRCh37
NC_000008.9:g.118916956C>T	NCBI36
NG_007455.2:g.281284G>A , LRG_493:g.281284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.539G>A
ENST00000378204.7:c.1072G>A MANE Select	ENSP00000367446.3:p.Val358Met
ENST00000436216.2:c.440G>A
ENST00000378204.6:c.1072G>A	ENSP00000367446.2:p.Val358Met
ENST00000436216.1:c.440G>A
ENST00000437196.1:c.89G>A	ENSP00000407299.1:p.Cys30Tyr
NM_000127.2:c.1072G>A , LRG_493t1:c.1072G>A	NP_000118.2:p.Val358Met
NM_000127.3:c.1072G>A MANE Select	NP_000118.2:p.Val358Met