Canonical Allele Identifier: CA2718098367

Gene: EXT1

Linked Data

• dbSNP Id: rs747507129

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110079A>T , CM000670.2:g.118110079A>T	GRCh38
NC_000008.10:g.119122318A>T , CM000670.1:g.119122318A>T	GRCh37
NC_000008.9:g.119191499A>T	NCBI36
NG_007455.2:g.6741T>A , LRG_493:g.6741T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.962+6T>A MANE Select	ENSP00000367446.3:n.962+6T>A
ENST00000436216.2:c.330+6T>A
ENST00000378204.6:c.962+6T>A	ENSP00000367446.2:n.962+6T>A
ENST00000436216.1:c.330+6T>A
ENST00000437196.1:c.73+895T>A	ENSP00000407299.1:n.73+895T>A
NM_000127.2:c.962+6T>A , LRG_493t1:c.962+6T>A	NP_000118.2:n.962+6T>A
NM_000127.3:c.962+6T>A MANE Select	NP_000118.2:n.962+6T>A