Canonical Allele Identifier: CA1814088359

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110104C= , CM000670.2:g.118110104C=	GRCh38
NC_000008.10:g.119122343C= , CM000670.1:g.119122343C=	GRCh37
NC_000008.9:g.119191524C=	NCBI36
NG_007455.2:g.6716G= , LRG_493:g.6716G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.943G= MANE Select	ENSP00000367446.3:p.Asp315=
ENST00000436216.2:c.311G=
ENST00000378204.6:c.943G=	ENSP00000367446.2:p.Asp315=
ENST00000436216.1:c.311G=
ENST00000437196.1:c.73+870G=	ENSP00000407299.1:n.73+870G=
NM_000127.2:c.943G= , LRG_493t1:c.943G=	NP_000118.2:p.Asp315=
NM_000127.3:c.943G= MANE Select	NP_000118.2:p.Asp315=