Canonical Allele Identifier: CA1813957464
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837284A= , CM000670.2:g.117837284A= GRCh38
NC_000008.10:g.118849523A= , CM000670.1:g.118849523A= GRCh37
NC_000008.9:g.118918704A= NCBI36
NG_007455.2:g.279536T= , LRG_493:g.279536T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.430-83T=
ENST00000378204.7:c.963-83T= MANE Select ENSP00000367446.3:n.963-83T=
ENST00000436216.2:c.331-83T=
ENST00000378204.6:c.963-83T= ENSP00000367446.2:n.963-83T=
ENST00000436216.1:c.331-83T=
ENST00000437196.1:c.74-1733T= ENSP00000407299.1:n.74-1733T=
NM_000127.2:c.963-83T= , LRG_493t1:c.963-83T= NP_000118.2:n.963-83T=
NM_000127.3:c.963-83T= MANE Select NP_000118.2:n.963-83T=