Canonical Allele Identifier: CA2781902110

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837086G>C , CM000670.2:g.117837086G>C	GRCh38
NC_000008.10:g.118849325G>C , CM000670.1:g.118849325G>C	GRCh37
NC_000008.9:g.118918506G>C	NCBI36
NG_007455.2:g.279734C>G , LRG_493:g.279734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.523+22C>G
ENST00000378204.7:c.1056+22C>G MANE Select	ENSP00000367446.3:n.1056+22C>G
ENST00000436216.2:c.424+22C>G
ENST00000378204.6:c.1056+22C>G	ENSP00000367446.2:n.1056+22C>G
ENST00000436216.1:c.424+22C>G
ENST00000437196.1:c.74-1535C>G	ENSP00000407299.1:n.74-1535C>G
NM_000127.2:c.1056+22C>G , LRG_493t1:c.1056+22C>G	NP_000118.2:n.1056+22C>G
NM_000127.3:c.1056+22C>G MANE Select	NP_000118.2:n.1056+22C>G