Canonical Allele Identifier: CA371892571

Gene: EXT1

Linked Data

• ClinVar Variation Id: 2418955
• ClinVar RCV Id: RCV003112199 ; RCV003157981
• MyVariant Identifiers: chr8:g.118847756C>T (hg19) ; chr8:g.117835517C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835517C>T , CM000670.2:g.117835517C>T	GRCh38
NC_000008.10:g.118847756C>T , CM000670.1:g.118847756C>T	GRCh37
NC_000008.9:g.118916937C>T	NCBI36
NG_007455.2:g.281303G>A , LRG_493:g.281303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.558G>A
ENST00000378204.7:c.1091G>A MANE Select	ENSP00000367446.3:p.Trp364Ter
ENST00000436216.2:c.459G>A
ENST00000378204.6:c.1091G>A	ENSP00000367446.2:p.Trp364Ter
ENST00000436216.1:c.459G>A
ENST00000437196.1:c.108G>A	ENSP00000407299.1:p.Met36Ile
NM_000127.2:c.1091G>A , LRG_493t1:c.1091G>A	NP_000118.2:p.Trp364Ter
NM_000127.3:c.1091G>A MANE Select	NP_000118.2:p.Trp364Ter