Canonical Allele Identifier: CA1813957427
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837216G= , CM000670.2:g.117837216G= GRCh38
NC_000008.10:g.118849455G= , CM000670.1:g.118849455G= GRCh37
NC_000008.9:g.118918636G= NCBI36
NG_007455.2:g.279604C= , LRG_493:g.279604C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.430-15C=
ENST00000378204.7:c.963-15C= MANE Select ENSP00000367446.3:n.963-15C=
ENST00000436216.2:c.331-15C=
ENST00000378204.6:c.963-15C= ENSP00000367446.2:n.963-15C=
ENST00000436216.1:c.331-15C=
ENST00000437196.1:c.74-1665C= ENSP00000407299.1:n.74-1665C=
NM_000127.2:c.963-15C= , LRG_493t1:c.963-15C= NP_000118.2:n.963-15C=
NM_000127.3:c.963-15C= MANE Select NP_000118.2:n.963-15C=