Canonical Allele Identifier: CA371885627
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448898
dbSNP Id: rs1554578802

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819796T>C , CM000670.2:g.117819796T>C GRCh38
NC_000008.10:g.118832035T>C , CM000670.1:g.118832035T>C GRCh37
NC_000008.9:g.118901216T>C NCBI36
NG_007455.2:g.297024A>G , LRG_493:g.297024A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-2A>G
ENST00000378204.7:c.1418-2A>G MANE Select ENSP00000367446.3:n.1418-2A>G
ENST00000378204.6:c.1418-2A>G ENSP00000367446.2:n.1418-2A>G
ENST00000437196.1:c.*309-2A>G ENSP00000407299.1:n.*309-2A>G
NM_000127.2:c.1418-2A>G , LRG_493t1:c.1418-2A>G NP_000118.2:n.1418-2A>G
NM_000127.3:c.1418-2A>G MANE Select NP_000118.2:n.1418-2A>G