Canonical Allele Identifier: CA252315
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2500
dbSNP Id: rs119103290

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837146G>A , CM000670.2:g.117837146G>A GRCh38
NC_000008.10:g.118849385G>A , CM000670.1:g.118849385G>A GRCh37
NC_000008.9:g.118918566G>A NCBI36
NG_007455.2:g.279674C>T , LRG_493:g.279674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.485C>T
ENST00000378204.7:c.1018C>T MANE Select ENSP00000367446.3:p.Arg340Cys
ENST00000436216.2:c.386C>T
ENST00000378204.6:c.1018C>T ENSP00000367446.2:p.Arg340Cys
ENST00000436216.1:c.386C>T
ENST00000437196.1:c.74-1595C>T ENSP00000407299.1:n.74-1595C>T
NM_000127.2:c.1018C>T , LRG_493t1:c.1018C>T NP_000118.2:p.Arg340Cys
NM_000127.3:c.1018C>T MANE Select NP_000118.2:p.Arg340Cys