Canonical Allele Identifier: CA1813957408

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837177G= , CM000670.2:g.117837177G=	GRCh38
NC_000008.10:g.118849416G= , CM000670.1:g.118849416G=	GRCh37
NC_000008.9:g.118918597G=	NCBI36
NG_007455.2:g.279643C= , LRG_493:g.279643C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.454C=
ENST00000378204.7:c.987C= MANE Select	ENSP00000367446.3:p.His329=
ENST00000436216.2:c.355C=
ENST00000378204.6:c.987C=	ENSP00000367446.2:p.His329=
ENST00000436216.1:c.355C=
ENST00000437196.1:c.74-1626C=	ENSP00000407299.1:n.74-1626C=
NM_000127.2:c.987C= , LRG_493t1:c.987C=	NP_000118.2:p.His329=
NM_000127.3:c.987C= MANE Select	NP_000118.2:p.His329=