Canonical Allele Identifier: CA10626907
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361671
ClinVar RCV Id: RCV000344117
dbSNP Id: rs78824154

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111555G>C , CM000670.2:g.118111555G>C GRCh38
NC_000008.10:g.119123794G>C , CM000670.1:g.119123794G>C GRCh37
NC_000008.9:g.119192975G>C NCBI36
NG_007455.2:g.5265C>G , LRG_493:g.5265C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-509C>G MANE Select ENSP00000367446.3:n.-509C>G
ENST00000378204.6:c.-509C>G ENSP00000367446.2:n.-509C>G
NM_000127.2:c.-509C>G , LRG_493t1:c.-509C>G NP_000118.2:n.-509C>G
NM_000127.3:c.-509C>G MANE Select NP_000118.2:n.-509C>G