Canonical Allele Identifier: CA462468857

Gene: EXT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.547C>A
ENST00000378204.7:c.1080C>A MANE Select	ENSP00000367446.3:p.Leu360=
ENST00000436216.2:c.448C>A
ENST00000378204.6:c.1080C>A	ENSP00000367446.2:p.Leu360=
ENST00000436216.1:c.448C>A
ENST00000437196.1:c.97C>A	ENSP00000407299.1:p.Gln33Lys
NM_000127.2:c.1080C>A , LRG_493t1:c.1080C>A	NP_000118.2:p.Leu360=
NM_000127.3:c.1080C>A MANE Select	NP_000118.2:p.Leu360=