Canonical Allele Identifier: CA462468982

Gene: EXT1

Linked Data

• dbSNP Id: rs1812200371
• MyVariant Identifiers: chr8:g.118849380C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837141C>T , CM000670.2:g.117837141C>T	GRCh38
NC_000008.10:g.118849380C>T , CM000670.1:g.118849380C>T	GRCh37
NC_000008.9:g.118918561C>T	NCBI36
NG_007455.2:g.279679G>A , LRG_493:g.279679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.490G>A
ENST00000378204.7:c.1023G>A MANE Select	ENSP00000367446.3:p.Arg341=
ENST00000436216.2:c.391G>A
ENST00000378204.6:c.1023G>A	ENSP00000367446.2:p.Arg341=
ENST00000436216.1:c.391G>A
ENST00000437196.1:c.74-1590G>A	ENSP00000407299.1:n.74-1590G>A
NM_000127.2:c.1023G>A , LRG_493t1:c.1023G>A	NP_000118.2:p.Arg341=
NM_000127.3:c.1023G>A MANE Select	NP_000118.2:p.Arg341=