Canonical Allele Identifier: CA462471437

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.119122353G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110114G>C , CM000670.2:g.118110114G>C	GRCh38
NC_000008.10:g.119122353G>C , CM000670.1:g.119122353G>C	GRCh37
NC_000008.9:g.119191534G>C	NCBI36
NG_007455.2:g.6706C>G , LRG_493:g.6706C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.933C>G MANE Select	ENSP00000367446.3:p.Arg311=
ENST00000436216.2:c.301C>G
ENST00000378204.6:c.933C>G	ENSP00000367446.2:p.Arg311=
ENST00000436216.1:c.301C>G
ENST00000437196.1:c.73+860C>G	ENSP00000407299.1:n.73+860C>G
NM_000127.2:c.933C>G , LRG_493t1:c.933C>G	NP_000118.2:p.Arg311=
NM_000127.3:c.933C>G MANE Select	NP_000118.2:p.Arg311=