Canonical Allele Identifier: CA1814088343

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110092A= , CM000670.2:g.118110092A=	GRCh38
NC_000008.10:g.119122331A= , CM000670.1:g.119122331A=	GRCh37
NC_000008.9:g.119191512A=	NCBI36
NG_007455.2:g.6728T= , LRG_493:g.6728T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.955T= MANE Select	ENSP00000367446.3:p.Tyr319=
ENST00000436216.2:c.323T=
ENST00000378204.6:c.955T=	ENSP00000367446.2:p.Tyr319=
ENST00000436216.1:c.323T=
ENST00000437196.1:c.73+882T=	ENSP00000407299.1:n.73+882T=
NM_000127.2:c.955T= , LRG_493t1:c.955T=	NP_000118.2:p.Tyr319=
NM_000127.3:c.955T= MANE Select	NP_000118.2:p.Tyr319=