Canonical Allele Identifier: CA371893384

Gene: EXT1

Linked Data

• ClinVar Variation Id: 449479
• ClinVar RCV Id: RCV000521970
• dbSNP Id: rs1554580158
• MyVariant Identifiers: chr8:g.118849431A>T (hg19) ; chr8:g.117837192A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837192A>T , CM000670.2:g.117837192A>T	GRCh38
NC_000008.10:g.118849431A>T , CM000670.1:g.118849431A>T	GRCh37
NC_000008.9:g.118918612A>T	NCBI36
NG_007455.2:g.279628T>A , LRG_493:g.279628T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.439T>A
ENST00000378204.7:c.972T>A MANE Select	ENSP00000367446.3:p.Tyr324Ter
ENST00000436216.2:c.340T>A
ENST00000378204.6:c.972T>A	ENSP00000367446.2:p.Tyr324Ter
ENST00000436216.1:c.340T>A
ENST00000437196.1:c.74-1641T>A	ENSP00000407299.1:n.74-1641T>A
NM_000127.2:c.972T>A , LRG_493t1:c.972T>A	NP_000118.2:p.Tyr324Ter
NM_000127.3:c.972T>A MANE Select	NP_000118.2:p.Tyr324Ter