Canonical Allele Identifier: CA371890173
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 526307
ClinVar RCV Id: RCV000630815
dbSNP Id: rs1554656266

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117799849G>A , CM000670.2:g.117799849G>A GRCh38
NC_000008.10:g.118812088G>A , CM000670.1:g.118812088G>A GRCh37
NC_000008.9:g.118881269G>A NCBI36
NG_007455.2:g.316971C>T , LRG_493:g.316971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1571C>T
ENST00000684443.1:n.2230C>T
ENST00000378204.7:c.2104C>T MANE Select ENSP00000367446.3:p.Gln702Ter
ENST00000378204.6:c.2104C>T ENSP00000367446.2:p.Gln702Ter
ENST00000437196.1:c.*995C>T ENSP00000407299.1:n.*995C>T
NM_000127.2:c.2104C>T , LRG_493t1:c.2104C>T NP_000118.2:p.Gln702Ter
NM_000127.3:c.2104C>T MANE Select NP_000118.2:p.Gln702Ter