Canonical Allele Identifier: CA1813957371

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837111C= , CM000670.2:g.117837111C=	GRCh38
NC_000008.10:g.118849350C= , CM000670.1:g.118849350C=	GRCh37
NC_000008.9:g.118918531C=	NCBI36
NG_007455.2:g.279709G= , LRG_493:g.279709G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.520G=
ENST00000378204.7:c.1053G= MANE Select	ENSP00000367446.3:p.Leu351=
ENST00000436216.2:c.421G=
ENST00000378204.6:c.1053G=	ENSP00000367446.2:p.Leu351=
ENST00000436216.1:c.421G=
ENST00000437196.1:c.74-1560G=	ENSP00000407299.1:n.74-1560G=
NM_000127.2:c.1053G= , LRG_493t1:c.1053G=	NP_000118.2:p.Leu351=
NM_000127.3:c.1053G= MANE Select	NP_000118.2:p.Leu351=