Canonical Allele Identifier: CA371878312

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819543C>A (hg19) ; chr8:g.117807304C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807304C>A , CM000670.2:g.117807304C>A	GRCh38
NC_000008.10:g.118819543C>A , CM000670.1:g.118819543C>A	GRCh37
NC_000008.9:g.118888724C>A	NCBI36
NG_007455.2:g.309516G>T , LRG_493:g.309516G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1263G>T
ENST00000378204.7:c.1796G>T MANE Select	ENSP00000367446.3:p.Trp599Leu
ENST00000378204.6:c.1796G>T	ENSP00000367446.2:p.Trp599Leu
ENST00000437196.1:c.*687G>T	ENSP00000407299.1:n.*687G>T
NM_000127.2:c.1796G>T , LRG_493t1:c.1796G>T	NP_000118.2:p.Trp599Leu
NM_000127.3:c.1796G>T MANE Select	NP_000118.2:p.Trp599Leu