Canonical Allele Identifier: CA371914681

Gene: EXT1

Linked Data

• dbSNP Id: rs748945641
• MyVariant Identifiers: chr8:g.119122336G>A (hg19) ; chr8:g.118110097G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110097G>A , CM000670.2:g.118110097G>A	GRCh38
NC_000008.10:g.119122336G>A , CM000670.1:g.119122336G>A	GRCh37
NC_000008.9:g.119191517G>A	NCBI36
NG_007455.2:g.6723C>T , LRG_493:g.6723C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.950C>T MANE Select	ENSP00000367446.3:p.Thr317Ile
ENST00000436216.2:c.318C>T
ENST00000378204.6:c.950C>T	ENSP00000367446.2:p.Thr317Ile
ENST00000436216.1:c.318C>T
ENST00000437196.1:c.73+877C>T	ENSP00000407299.1:n.73+877C>T
NM_000127.2:c.950C>T , LRG_493t1:c.950C>T	NP_000118.2:p.Thr317Ile
NM_000127.3:c.950C>T MANE Select	NP_000118.2:p.Thr317Ile