Canonical Allele Identifier: CA4854193

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117830235G>C , CM000670.2:g.117830235G>C	GRCh38
NC_000008.10:g.118842474G>C , CM000670.1:g.118842474G>C	GRCh37
NC_000008.9:g.118911655G>C	NCBI36
NG_007455.2:g.286585C>G , LRG_493:g.286585C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000127.3:c.1279C>G MANE Select	NP_000118.2:p.Leu427Val
ENST00000378204.7:c.1279C>G MANE Select	ENSP00000367446.3:p.Leu427Val
NM_000127.2:c.1279C>G , LRG_493t1:c.1279C>G	NP_000118.2:p.Leu427Val
ENST00000378204.6:c.1279C>G	ENSP00000367446.2:p.Leu427Val
ENST00000436216.2:c.702C>G
ENST00000437196.1:c.*170C>G	ENSP00000407299.1:n.*170C>G
ENST00000684189.1:n.746C>G