Canonical Allele Identifier: CA2781908707
Gene: EXT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111614T>C , CM000670.2:g.118111614T>C GRCh38
NC_000008.10:g.119123853T>C , CM000670.1:g.119123853T>C GRCh37
NC_000008.9:g.119193034T>C NCBI36
NG_007455.2:g.5206A>G , LRG_493:g.5206A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-568A>G MANE Select ENSP00000367446.3:n.-568A>G
ENST00000378204.6:c.-568A>G ENSP00000367446.2:n.-568A>G
NM_000127.2:c.-568A>G , LRG_493t1:c.-568A>G NP_000118.2:n.-568A>G
NM_000127.3:c.-568A>G MANE Select NP_000118.2:n.-568A>G
Search 100 bp 5'
Search 100 bp 3'