Canonical Allele Identifier: CA10630032

Gene: EXT1

Linked Data

• ClinVar Variation Id: 361650
• ClinVar RCV Id: RCV000378101
• dbSNP Id: rs751063786
• gnomAD v2: 8-118811800-A-G
• gnomAD v3: 8-117799561-A-G
• gnomAD v4: 8-117799561-A-G
• MyVariant Identifiers: chr8:g.118811800A>G (hg19) ; chr8:g.117799561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117799561A>G , CM000670.2:g.117799561A>G	GRCh38
NC_000008.10:g.118811800A>G , CM000670.1:g.118811800A>G	GRCh37
NC_000008.9:g.118880981A>G	NCBI36
NG_007455.2:g.317259T>C , LRG_493:g.317259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1859T>C
ENST00000378204.7:c.*151T>C MANE Select	ENSP00000367446.3:n.*151T>C
ENST00000378204.6:c.*151T>C	ENSP00000367446.2:n.*151T>C
NM_000127.2:c.*151T>C , LRG_493t1:c.*151T>C	NP_000118.2:n.*151T>C
NM_000127.3:c.*151T>C MANE Select	NP_000118.2:n.*151T>C