Canonical Allele Identifier: CA462645061

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.119122404G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110165G>T , CM000670.2:g.118110165G>T	GRCh38
NC_000008.10:g.119122404G>T , CM000670.1:g.119122404G>T	GRCh37
NC_000008.9:g.119191585G>T	NCBI36
NG_007455.2:g.6655C>A , LRG_493:g.6655C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.882C>A MANE Select	ENSP00000367446.3:p.Leu294=
ENST00000436216.2:c.250C>A
ENST00000378204.6:c.882C>A	ENSP00000367446.2:p.Leu294=
ENST00000436216.1:c.250C>A
ENST00000437196.1:c.73+809C>A	ENSP00000407299.1:n.73+809C>A
NM_000127.2:c.882C>A , LRG_493t1:c.882C>A	NP_000118.2:p.Leu294=
NM_000127.3:c.882C>A MANE Select	NP_000118.2:p.Leu294=