Canonical Allele Identifier: CA1814088403

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110147A= , CM000670.2:g.118110147A=	GRCh38
NC_000008.10:g.119122386A= , CM000670.1:g.119122386A=	GRCh37
NC_000008.9:g.119191567A=	NCBI36
NG_007455.2:g.6673T= , LRG_493:g.6673T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.900T= MANE Select	ENSP00000367446.3:p.His300=
ENST00000436216.2:c.268T=
ENST00000378204.6:c.900T=	ENSP00000367446.2:p.His300=
ENST00000436216.1:c.268T=
ENST00000437196.1:c.73+827T=	ENSP00000407299.1:n.73+827T=
NM_000127.2:c.900T= , LRG_493t1:c.900T=	NP_000118.2:p.His300=
NM_000127.3:c.900T= MANE Select	NP_000118.2:p.His300=