Canonical Allele Identifier: CA10630045
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361668
ClinVar RCV Id: RCV000352222
dbSNP Id: rs144282710

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111370G>C , CM000670.2:g.118111370G>C GRCh38
NC_000008.10:g.119123609G>C , CM000670.1:g.119123609G>C GRCh37
NC_000008.9:g.119192790G>C NCBI36
NG_007455.2:g.5450C>G , LRG_493:g.5450C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-324C>G MANE Select ENSP00000367446.3:n.-324C>G
ENST00000378204.6:c.-324C>G ENSP00000367446.2:n.-324C>G
NM_000127.2:c.-324C>G , LRG_493t1:c.-324C>G NP_000118.2:n.-324C>G
NM_000127.3:c.-324C>G MANE Select NP_000118.2:n.-324C>G