Canonical Allele Identifier: CA1813956713

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835536C= , CM000670.2:g.117835536C=	GRCh38
NC_000008.10:g.118847775C= , CM000670.1:g.118847775C=	GRCh37
NC_000008.9:g.118916956C=	NCBI36
NG_007455.2:g.281284G= , LRG_493:g.281284G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.539G=
ENST00000378204.7:c.1072G= MANE Select	ENSP00000367446.3:p.Val358=
ENST00000436216.2:c.440G=
ENST00000378204.6:c.1072G=	ENSP00000367446.2:p.Val358=
ENST00000436216.1:c.440G=
ENST00000437196.1:c.89G=	ENSP00000407299.1:p.Cys30=
NM_000127.2:c.1072G= , LRG_493t1:c.1072G=	NP_000118.2:p.Val358=
NM_000127.3:c.1072G= MANE Select	NP_000118.2:p.Val358=