Canonical Allele Identifier: CA371893262

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118849370A>T (hg19) ; chr8:g.117837131A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837131A>T , CM000670.2:g.117837131A>T	GRCh38
NC_000008.10:g.118849370A>T , CM000670.1:g.118849370A>T	GRCh37
NC_000008.9:g.118918551A>T	NCBI36
NG_007455.2:g.279689T>A , LRG_493:g.279689T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.500T>A
ENST00000378204.7:c.1033T>A MANE Select	ENSP00000367446.3:p.Phe345Ile
ENST00000436216.2:c.401T>A
ENST00000378204.6:c.1033T>A	ENSP00000367446.2:p.Phe345Ile
ENST00000436216.1:c.401T>A
ENST00000437196.1:c.74-1580T>A	ENSP00000407299.1:n.74-1580T>A
NM_000127.2:c.1033T>A , LRG_493t1:c.1033T>A	NP_000118.2:p.Phe345Ile
NM_000127.3:c.1033T>A MANE Select	NP_000118.2:p.Phe345Ile