Canonical Allele Identifier: CA1813957363
Gene: EXT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837097G= , CM000670.2:g.117837097G= GRCh38
NC_000008.10:g.118849336G= , CM000670.1:g.118849336G= GRCh37
NC_000008.9:g.118918517G= NCBI36
NG_007455.2:g.279723C= , LRG_493:g.279723C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.523+11C=
ENST00000378204.7:c.1056+11C= MANE Select ENSP00000367446.3:n.1056+11C=
ENST00000436216.2:c.424+11C=
ENST00000378204.6:c.1056+11C= ENSP00000367446.2:n.1056+11C=
ENST00000436216.1:c.424+11C=
ENST00000437196.1:c.74-1546C= ENSP00000407299.1:n.74-1546C=
NM_000127.2:c.1056+11C= , LRG_493t1:c.1056+11C= NP_000118.2:n.1056+11C=
NM_000127.3:c.1056+11C= MANE Select NP_000118.2:n.1056+11C=
Search 100 bp 5'
Search 100 bp 3'