Canonical Allele Identifier: CA371878325

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819545G>T (hg19) ; chr8:g.117807306G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807306G>T , CM000670.2:g.117807306G>T	GRCh38
NC_000008.10:g.118819545G>T , CM000670.1:g.118819545G>T	GRCh37
NC_000008.9:g.118888726G>T	NCBI36
NG_007455.2:g.309514C>A , LRG_493:g.309514C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1261C>A
ENST00000378204.7:c.1794C>A MANE Select	ENSP00000367446.3:p.Phe598Leu
ENST00000378204.6:c.1794C>A	ENSP00000367446.2:p.Phe598Leu
ENST00000437196.1:c.*685C>A	ENSP00000407299.1:n.*685C>A
NM_000127.2:c.1794C>A , LRG_493t1:c.1794C>A	NP_000118.2:p.Phe598Leu
NM_000127.3:c.1794C>A MANE Select	NP_000118.2:p.Phe598Leu