Canonical Allele Identifier: CA371878427

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819564T>A (hg19) ; chr8:g.117807325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807325T>A , CM000670.2:g.117807325T>A	GRCh38
NC_000008.10:g.118819564T>A , CM000670.1:g.118819564T>A	GRCh37
NC_000008.9:g.118888745T>A	NCBI36
NG_007455.2:g.309495A>T , LRG_493:g.309495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1242A>T
ENST00000378204.7:c.1775A>T MANE Select	ENSP00000367446.3:p.Tyr592Phe
ENST00000378204.6:c.1775A>T	ENSP00000367446.2:p.Tyr592Phe
ENST00000437196.1:c.*666A>T	ENSP00000407299.1:n.*666A>T
NM_000127.2:c.1775A>T , LRG_493t1:c.1775A>T	NP_000118.2:p.Tyr592Phe
NM_000127.3:c.1775A>T MANE Select	NP_000118.2:p.Tyr592Phe