Canonical Allele Identifier: CA1814090842
Gene: EXT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111764G= , CM000670.2:g.118111764G= GRCh38
NC_000008.10:g.119124003G= , CM000670.1:g.119124003G= GRCh37
NC_000008.9:g.119193184G= NCBI36
NG_007455.2:g.5056C= , LRG_493:g.5056C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-718C= MANE Select ENSP00000367446.3:n.-718C=
ENST00000378204.6:c.-718C= ENSP00000367446.2:n.-718C=
NM_000127.2:c.-718C= , LRG_493t1:c.-718C= NP_000118.2:n.-718C=
NM_000127.3:c.-718C= MANE Select NP_000118.2:n.-718C=
Search 100 bp 5'
Search 100 bp 3'