Canonical Allele Identifier: CA462468811

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118847707T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835468T>G , CM000670.2:g.117835468T>G	GRCh38
NC_000008.10:g.118847707T>G , CM000670.1:g.118847707T>G	GRCh37
NC_000008.9:g.118916888T>G	NCBI36
NG_007455.2:g.281352A>C , LRG_493:g.281352A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.607A>C
ENST00000378204.7:c.1140A>C MANE Select	ENSP00000367446.3:p.Ile380=
ENST00000436216.2:c.508A>C
ENST00000378204.6:c.1140A>C	ENSP00000367446.2:p.Ile380=
ENST00000436216.1:c.508A>C
ENST00000437196.1:c.*31A>C	ENSP00000407299.1:n.*31A>C
NM_000127.2:c.1140A>C , LRG_493t1:c.1140A>C	NP_000118.2:p.Ile380=
NM_000127.3:c.1140A>C MANE Select	NP_000118.2:p.Ile380=