Canonical Allele Identifier: CA371893301

Gene: EXT1

Linked Data

• ClinVar Variation Id: 855456
• ClinVar RCV Id: RCV001060732
• dbSNP Id: rs1812200901
• MyVariant Identifiers: chr8:g.118849393G>C (hg19) ; chr8:g.117837154G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837154G>C , CM000670.2:g.117837154G>C	GRCh38
NC_000008.10:g.118849393G>C , CM000670.1:g.118849393G>C	GRCh37
NC_000008.9:g.118918574G>C	NCBI36
NG_007455.2:g.279666C>G , LRG_493:g.279666C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.477C>G
ENST00000378204.7:c.1010C>G MANE Select	ENSP00000367446.3:p.Pro337Arg
ENST00000436216.2:c.378C>G
ENST00000378204.6:c.1010C>G	ENSP00000367446.2:p.Pro337Arg
ENST00000436216.1:c.378C>G
ENST00000437196.1:c.74-1603C>G	ENSP00000407299.1:n.74-1603C>G
NM_000127.2:c.1010C>G , LRG_493t1:c.1010C>G	NP_000118.2:p.Pro337Arg
NM_000127.3:c.1010C>G MANE Select	NP_000118.2:p.Pro337Arg