Canonical Allele Identifier: CA1813949924
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819868C= , CM000670.2:g.117819868C= GRCh38
NC_000008.10:g.118832107C= , CM000670.1:g.118832107C= GRCh37
NC_000008.9:g.118901288C= NCBI36
NG_007455.2:g.296952G= , LRG_493:g.296952G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-74G=
ENST00000378204.7:c.1418-74G= MANE Select ENSP00000367446.3:n.1418-74G=
ENST00000378204.6:c.1418-74G= ENSP00000367446.2:n.1418-74G=
ENST00000437196.1:c.*309-74G= ENSP00000407299.1:n.*309-74G=
NM_000127.2:c.1418-74G= , LRG_493t1:c.1418-74G= NP_000118.2:n.1418-74G=
NM_000127.3:c.1418-74G= MANE Select NP_000118.2:n.1418-74G=