Canonical Allele Identifier: CA658657822
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456060
ClinVar RCV Id: RCV000551584
dbSNP Id: rs1554580140

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837105T>G , CM000670.2:g.117837105T>G GRCh38
NC_000008.10:g.118849344T>G , CM000670.1:g.118849344T>G GRCh37
NC_000008.9:g.118918525T>G NCBI36
NG_007455.2:g.279715A>C , LRG_493:g.279715A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.523+3A>C
ENST00000378204.7:c.1056+3A>C MANE Select ENSP00000367446.3:n.1056+3A>C
ENST00000436216.2:c.424+3A>C
ENST00000378204.6:c.1056+3A>C ENSP00000367446.2:n.1056+3A>C
ENST00000436216.1:c.424+3A>C
ENST00000437196.1:c.74-1554A>C ENSP00000407299.1:n.74-1554A>C
NM_000127.2:c.1056+3A>C , LRG_493t1:c.1056+3A>C NP_000118.2:n.1056+3A>C
NM_000127.3:c.1056+3A>C MANE Select NP_000118.2:n.1056+3A>C