Canonical Allele Identifier: CA371878643

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819609A>C (hg19) ; chr8:g.117807370A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807370A>C , CM000670.2:g.117807370A>C	GRCh38
NC_000008.10:g.118819609A>C , CM000670.1:g.118819609A>C	GRCh37
NC_000008.9:g.118888790A>C	NCBI36
NG_007455.2:g.309450T>G , LRG_493:g.309450T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1197T>G
ENST00000378204.7:c.1730T>G MANE Select	ENSP00000367446.3:p.Phe577Cys
ENST00000378204.6:c.1730T>G	ENSP00000367446.2:p.Phe577Cys
ENST00000437196.1:c.*621T>G	ENSP00000407299.1:n.*621T>G
NM_000127.2:c.1730T>G , LRG_493t1:c.1730T>G	NP_000118.2:p.Phe577Cys
NM_000127.3:c.1730T>G MANE Select	NP_000118.2:p.Phe577Cys