Canonical Allele Identifier: CA371878572

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819590C>A (hg19) ; chr8:g.117807351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807351C>A , CM000670.2:g.117807351C>A	GRCh38
NC_000008.10:g.118819590C>A , CM000670.1:g.118819590C>A	GRCh37
NC_000008.9:g.118888771C>A	NCBI36
NG_007455.2:g.309469G>T , LRG_493:g.309469G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.1216G>T
ENST00000378204.7:c.1749G>T MANE Select	ENSP00000367446.3:p.Gln583His
ENST00000378204.6:c.1749G>T	ENSP00000367446.2:p.Gln583His
ENST00000437196.1:c.*640G>T	ENSP00000407299.1:n.*640G>T
NM_000127.2:c.1749G>T , LRG_493t1:c.1749G>T	NP_000118.2:p.Gln583His
NM_000127.3:c.1749G>T MANE Select	NP_000118.2:p.Gln583His