Canonical Allele Identifier: CA1814088279

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110065A= , CM000670.2:g.118110065A=	GRCh38
NC_000008.10:g.119122304A= , CM000670.1:g.119122304A=	GRCh37
NC_000008.9:g.119191485A=	NCBI36
NG_007455.2:g.6755T= , LRG_493:g.6755T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.962+20T= MANE Select	ENSP00000367446.3:n.962+20T=
ENST00000436216.2:c.330+20T=
ENST00000378204.6:c.962+20T=	ENSP00000367446.2:n.962+20T=
ENST00000436216.1:c.330+20T=
ENST00000437196.1:c.73+909T=	ENSP00000407299.1:n.73+909T=
NM_000127.2:c.962+20T= , LRG_493t1:c.962+20T=	NP_000118.2:n.962+20T=
NM_000127.3:c.962+20T= MANE Select	NP_000118.2:n.962+20T=