Canonical Allele Identifier: CA462468865

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118847776A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835537A>C , CM000670.2:g.117835537A>C	GRCh38
NC_000008.10:g.118847776A>C , CM000670.1:g.118847776A>C	GRCh37
NC_000008.9:g.118916957A>C	NCBI36
NG_007455.2:g.281283T>G , LRG_493:g.281283T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.538T>G
ENST00000378204.7:c.1071T>G MANE Select	ENSP00000367446.3:p.Pro357=
ENST00000436216.2:c.439T>G
ENST00000378204.6:c.1071T>G	ENSP00000367446.2:p.Pro357=
ENST00000436216.1:c.439T>G
ENST00000437196.1:c.88T>G	ENSP00000407299.1:p.Cys30Gly
NM_000127.2:c.1071T>G , LRG_493t1:c.1071T>G	NP_000118.2:p.Pro357=
NM_000127.3:c.1071T>G MANE Select	NP_000118.2:p.Pro357=