Canonical Allele Identifier: CA462468856

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118847767G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835528G>C , CM000670.2:g.117835528G>C	GRCh38
NC_000008.10:g.118847767G>C , CM000670.1:g.118847767G>C	GRCh37
NC_000008.9:g.118916948G>C	NCBI36
NG_007455.2:g.281292C>G , LRG_493:g.281292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.547C>G
ENST00000378204.7:c.1080C>G MANE Select	ENSP00000367446.3:p.Leu360=
ENST00000436216.2:c.448C>G
ENST00000378204.6:c.1080C>G	ENSP00000367446.2:p.Leu360=
ENST00000436216.1:c.448C>G
ENST00000437196.1:c.97C>G	ENSP00000407299.1:p.Gln33Glu
NM_000127.2:c.1080C>G , LRG_493t1:c.1080C>G	NP_000118.2:p.Leu360=
NM_000127.3:c.1080C>G MANE Select	NP_000118.2:p.Leu360=