Canonical Allele Identifier: CA371892349

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118847739C>T (hg19) ; chr8:g.117835500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835500C>T , CM000670.2:g.117835500C>T	GRCh38
NC_000008.10:g.118847739C>T , CM000670.1:g.118847739C>T	GRCh37
NC_000008.9:g.118916920C>T	NCBI36
NG_007455.2:g.281320G>A , LRG_493:g.281320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.575G>A
ENST00000378204.7:c.1108G>A MANE Select	ENSP00000367446.3:p.Glu370Lys
ENST00000436216.2:c.476G>A
ENST00000378204.6:c.1108G>A	ENSP00000367446.2:p.Glu370Lys
ENST00000436216.1:c.476G>A
ENST00000437196.1:c.125G>A	ENSP00000407299.1:p.Ter42=
NM_000127.2:c.1108G>A , LRG_493t1:c.1108G>A	NP_000118.2:p.Glu370Lys
NM_000127.3:c.1108G>A MANE Select	NP_000118.2:p.Glu370Lys