Canonical Allele Identifier: CA371914922

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.119122438A>C (hg19) ; chr8:g.118110199A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110199A>C , CM000670.2:g.118110199A>C	GRCh38
NC_000008.10:g.119122438A>C , CM000670.1:g.119122438A>C	GRCh37
NC_000008.9:g.119191619A>C	NCBI36
NG_007455.2:g.6621T>G , LRG_493:g.6621T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.848T>G MANE Select	ENSP00000367446.3:p.Leu283Ter
ENST00000436216.2:c.216T>G
ENST00000378204.6:c.848T>G	ENSP00000367446.2:p.Leu283Ter
ENST00000436216.1:c.216T>G
ENST00000437196.1:c.73+775T>G	ENSP00000407299.1:n.73+775T>G
NM_000127.2:c.848T>G , LRG_493t1:c.848T>G	NP_000118.2:p.Leu283Ter
NM_000127.3:c.848T>G MANE Select	NP_000118.2:p.Leu283Ter