Canonical Allele Identifier: CA1814090294
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111328G= , CM000670.2:g.118111328G= GRCh38
NC_000008.10:g.119123567G= , CM000670.1:g.119123567G= GRCh37
NC_000008.9:g.119192748G= NCBI36
NG_007455.2:g.5492C= , LRG_493:g.5492C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-282C= MANE Select ENSP00000367446.3:n.-282C=
ENST00000378204.6:c.-282C= ENSP00000367446.2:n.-282C=
ENST00000437196.1:c.-282C= ENSP00000407299.1:n.-282C=
NM_000127.2:c.-282C= , LRG_493t1:c.-282C= NP_000118.2:n.-282C=
NM_000127.3:c.-282C= MANE Select NP_000118.2:n.-282C=