Canonical Allele Identifier: CA16618592

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110797G>A , CM000670.2:g.118110797G>A	GRCh38
NC_000008.10:g.119123036G>A , CM000670.1:g.119123036G>A	GRCh37
NC_000008.9:g.119192217G>A	NCBI36
NG_007455.2:g.6023C>T , LRG_493:g.6023C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000127.3:c.250C>T MANE Select	NP_000118.2:p.Gln84Ter
ENST00000378204.7:c.250C>T MANE Select	ENSP00000367446.3:p.Gln84Ter
NM_000127.2:c.250C>T , LRG_493t1:c.250C>T	NP_000118.2:p.Gln84Ter
ENST00000378204.6:c.250C>T	ENSP00000367446.2:p.Gln84Ter
ENST00000437196.1:c.73+177C>T	ENSP00000407299.1:n.73+177C>T