Canonical Allele Identifier: CA10588449
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265128
dbSNP Id: rs886039354

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837107C>A , CM000670.2:g.117837107C>A GRCh38
NC_000008.10:g.118849346C>A , CM000670.1:g.118849346C>A GRCh37
NC_000008.9:g.118918527C>A NCBI36
NG_007455.2:g.279713G>T , LRG_493:g.279713G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.523+1G>T
ENST00000378204.7:c.1056+1G>T MANE Select ENSP00000367446.3:n.1056+1G>T
ENST00000436216.2:c.424+1G>T
ENST00000378204.6:c.1056+1G>T ENSP00000367446.2:n.1056+1G>T
ENST00000436216.1:c.424+1G>T
ENST00000437196.1:c.74-1556G>T ENSP00000407299.1:n.74-1556G>T
NM_000127.2:c.1056+1G>T , LRG_493t1:c.1056+1G>T NP_000118.2:n.1056+1G>T
NM_000127.3:c.1056+1G>T MANE Select NP_000118.2:n.1056+1G>T