Canonical Allele Identifier: CA1813957372

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837114A= , CM000670.2:g.117837114A=	GRCh38
NC_000008.10:g.118849353A= , CM000670.1:g.118849353A=	GRCh37
NC_000008.9:g.118918534A=	NCBI36
NG_007455.2:g.279706T= , LRG_493:g.279706T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.517T=
ENST00000378204.7:c.1050T= MANE Select	ENSP00000367446.3:p.Ala350=
ENST00000436216.2:c.418T=
ENST00000378204.6:c.1050T=	ENSP00000367446.2:p.Ala350=
ENST00000436216.1:c.418T=
ENST00000437196.1:c.74-1563T=	ENSP00000407299.1:n.74-1563T=
NM_000127.2:c.1050T= , LRG_493t1:c.1050T=	NP_000118.2:p.Ala350=
NM_000127.3:c.1050T= MANE Select	NP_000118.2:p.Ala350=