Canonical Allele Identifier: CA252310
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2498
dbSNP Id: rs119103288

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837148C>T , CM000670.2:g.117837148C>T GRCh38
NC_000008.10:g.118849387C>T , CM000670.1:g.118849387C>T GRCh37
NC_000008.9:g.118918568C>T NCBI36
NG_007455.2:g.279672G>A , LRG_493:g.279672G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.483G>A
ENST00000378204.7:c.1016G>A MANE Select ENSP00000367446.3:p.Gly339Asp
ENST00000436216.2:c.384G>A
ENST00000378204.6:c.1016G>A ENSP00000367446.2:p.Gly339Asp
ENST00000436216.1:c.384G>A
ENST00000437196.1:c.74-1597G>A ENSP00000407299.1:n.74-1597G>A
NM_000127.2:c.1016G>A , LRG_493t1:c.1016G>A NP_000118.2:p.Gly339Asp
NM_000127.3:c.1016G>A MANE Select NP_000118.2:p.Gly339Asp