Canonical Allele Identifier: CA4854410

Gene: EXT1

Linked Data

• ClinVar Variation Id: 361662
• ClinVar RCV Id: RCV000268096 ; RCV002058697
• dbSNP Id: rs772811741
• ExAC: 8:119123138 T / C
• gnomAD v2: 8-119123138-T-C
• gnomAD v3: 8-118110899-T-C
• gnomAD v4: 8-118110899-T-C
• MyVariant Identifiers: chr8:g.119123138T>C (hg19) ; chr8:g.118110899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110899T>C , CM000670.2:g.118110899T>C	GRCh38
NC_000008.10:g.119123138T>C , CM000670.1:g.119123138T>C	GRCh37
NC_000008.9:g.119192319T>C	NCBI36
NG_007455.2:g.5921A>G , LRG_493:g.5921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.148A>G MANE Select	ENSP00000367446.3:p.Ser50Gly
ENST00000378204.6:c.148A>G	ENSP00000367446.2:p.Ser50Gly
ENST00000437196.1:c.73+75A>G	ENSP00000407299.1:n.73+75A>G
NM_000127.2:c.148A>G , LRG_493t1:c.148A>G	NP_000118.2:p.Ser50Gly
NM_000127.3:c.148A>G MANE Select	NP_000118.2:p.Ser50Gly