Canonical Allele Identifier: CA10630046
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361674
dbSNP Id: rs188740055

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111681G>A , CM000670.2:g.118111681G>A GRCh38
NC_000008.10:g.119123920G>A , CM000670.1:g.119123920G>A GRCh37
NC_000008.9:g.119193101G>A NCBI36
NG_007455.2:g.5139C>T , LRG_493:g.5139C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-635C>T MANE Select ENSP00000367446.3:n.-635C>T
ENST00000378204.6:c.-635C>T ENSP00000367446.2:n.-635C>T
NM_000127.2:c.-635C>T , LRG_493t1:c.-635C>T NP_000118.2:n.-635C>T
NM_000127.3:c.-635C>T MANE Select NP_000118.2:n.-635C>T