Canonical Allele Identifier: CA371893183

Gene: EXT1

Linked Data

• ClinVar Variation Id: 456059
• ClinVar RCV Id: RCV000536837
• dbSNP Id: rs1554580142
• MyVariant Identifiers: chr8:g.118849345A>T (hg19) ; chr8:g.117837106A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837106A>T , CM000670.2:g.117837106A>T	GRCh38
NC_000008.10:g.118849345A>T , CM000670.1:g.118849345A>T	GRCh37
NC_000008.9:g.118918526A>T	NCBI36
NG_007455.2:g.279714T>A , LRG_493:g.279714T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.523+2T>A
ENST00000378204.7:c.1056+2T>A MANE Select	ENSP00000367446.3:n.1056+2T>A
ENST00000436216.2:c.424+2T>A
ENST00000378204.6:c.1056+2T>A	ENSP00000367446.2:n.1056+2T>A
ENST00000436216.1:c.424+2T>A
ENST00000437196.1:c.74-1555T>A	ENSP00000407299.1:n.74-1555T>A
NM_000127.2:c.1056+2T>A , LRG_493t1:c.1056+2T>A	NP_000118.2:n.1056+2T>A
NM_000127.3:c.1056+2T>A MANE Select	NP_000118.2:n.1056+2T>A