Canonical Allele Identifier: CA371914709

Gene: EXT1

Linked Data

• gnomAD v4: 8-118110108-G-C
• MyVariant Identifiers: chr8:g.119122347G>C (hg19) ; chr8:g.118110108G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110108G>C , CM000670.2:g.118110108G>C	GRCh38
NC_000008.10:g.119122347G>C , CM000670.1:g.119122347G>C	GRCh37
NC_000008.9:g.119191528G>C	NCBI36
NG_007455.2:g.6712C>G , LRG_493:g.6712C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.939C>G MANE Select	ENSP00000367446.3:p.Asp313Glu
ENST00000436216.2:c.307C>G
ENST00000378204.6:c.939C>G	ENSP00000367446.2:p.Asp313Glu
ENST00000436216.1:c.307C>G
ENST00000437196.1:c.73+866C>G	ENSP00000407299.1:n.73+866C>G
NM_000127.2:c.939C>G , LRG_493t1:c.939C>G	NP_000118.2:p.Asp313Glu
NM_000127.3:c.939C>G MANE Select	NP_000118.2:p.Asp313Glu