Canonical Allele Identifier: CA1813956604

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835251G= , CM000670.2:g.117835251G=	GRCh38
NC_000008.10:g.118847490G= , CM000670.1:g.118847490G=	GRCh37
NC_000008.9:g.118916671G=	NCBI36
NG_007455.2:g.281569C= , LRG_493:g.281569C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+193C=
ENST00000378204.7:c.1164+193C= MANE Select	ENSP00000367446.3:n.1164+193C=
ENST00000436216.2:c.532+193C=
ENST00000378204.6:c.1164+193C=	ENSP00000367446.2:n.1164+193C=
ENST00000436216.1:c.532+193C=
ENST00000437196.1:c.*55+193C=	ENSP00000407299.1:n.*55+193C=
NM_000127.2:c.1164+193C= , LRG_493t1:c.1164+193C=	NP_000118.2:n.1164+193C=
NM_000127.3:c.1164+193C= MANE Select	NP_000118.2:n.1164+193C=