Canonical Allele Identifier: CA371878663

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819612T>C (hg19) ; chr8:g.117807373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807373T>C , CM000670.2:g.117807373T>C	GRCh38
NC_000008.10:g.118819612T>C , CM000670.1:g.118819612T>C	GRCh37
NC_000008.9:g.118888793T>C	NCBI36
NG_007455.2:g.309447A>G , LRG_493:g.309447A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1194A>G
ENST00000378204.7:c.1727A>G MANE Select	ENSP00000367446.3:p.Asp576Gly
ENST00000378204.6:c.1727A>G	ENSP00000367446.2:p.Asp576Gly
ENST00000437196.1:c.*618A>G	ENSP00000407299.1:n.*618A>G
NM_000127.2:c.1727A>G , LRG_493t1:c.1727A>G	NP_000118.2:p.Asp576Gly
NM_000127.3:c.1727A>G MANE Select	NP_000118.2:p.Asp576Gly