Canonical Allele Identifier: CA371914923

Gene: EXT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.848T>C MANE Select	ENSP00000367446.3:p.Leu283Ser
ENST00000436216.2:c.216T>C
ENST00000378204.6:c.848T>C	ENSP00000367446.2:p.Leu283Ser
ENST00000436216.1:c.216T>C
ENST00000437196.1:c.73+775T>C	ENSP00000407299.1:n.73+775T>C
NM_000127.2:c.848T>C , LRG_493t1:c.848T>C	NP_000118.2:p.Leu283Ser
NM_000127.3:c.848T>C MANE Select	NP_000118.2:p.Leu283Ser