Canonical Allele Identifier: CA1814088235
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110004C= , CM000670.2:g.118110004C= GRCh38
NC_000008.10:g.119122243C= , CM000670.1:g.119122243C= GRCh37
NC_000008.9:g.119191424C= NCBI36
NG_007455.2:g.6816G= , LRG_493:g.6816G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.962+81G= MANE Select ENSP00000367446.3:n.962+81G=
ENST00000436216.2:c.330+81G=
ENST00000378204.6:c.962+81G= ENSP00000367446.2:n.962+81G=
ENST00000436216.1:c.330+81G=
ENST00000437196.1:c.73+970G= ENSP00000407299.1:n.73+970G=
NM_000127.2:c.962+81G= , LRG_493t1:c.962+81G= NP_000118.2:n.962+81G=
NM_000127.3:c.962+81G= MANE Select NP_000118.2:n.962+81G=