Canonical Allele Identifier: CA4854012
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361654
dbSNP Id: rs61753261

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807318C>T , CM000670.2:g.117807318C>T GRCh38
NC_000008.10:g.118819557C>T , CM000670.1:g.118819557C>T GRCh37
NC_000008.9:g.118888738C>T NCBI36
NG_007455.2:g.309502G>A , LRG_493:g.309502G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1249G>A
ENST00000378204.7:c.1782G>A MANE Select ENSP00000367446.3:p.Ala594=
ENST00000378204.6:c.1782G>A ENSP00000367446.2:p.Ala594=
ENST00000437196.1:c.*673G>A ENSP00000407299.1:n.*673G>A
NM_000127.2:c.1782G>A , LRG_493t1:c.1782G>A NP_000118.2:p.Ala594=
NM_000127.3:c.1782G>A MANE Select NP_000118.2:p.Ala594=