Canonical Allele Identifier: CA462471427
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1228285707
MyVariant Identifiers: chr8:g.119122335G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110096G>T , CM000670.2:g.118110096G>T GRCh38
NC_000008.10:g.119122335G>T , CM000670.1:g.119122335G>T GRCh37
NC_000008.9:g.119191516G>T NCBI36
NG_007455.2:g.6724C>A , LRG_493:g.6724C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.951C>A MANE Select ENSP00000367446.3:p.Thr317=
ENST00000436216.2:c.319C>A
ENST00000378204.6:c.951C>A ENSP00000367446.2:p.Thr317=
ENST00000436216.1:c.319C>A
ENST00000437196.1:c.73+878C>A ENSP00000407299.1:n.73+878C>A
NM_000127.2:c.951C>A , LRG_493t1:c.951C>A NP_000118.2:p.Thr317=
NM_000127.3:c.951C>A MANE Select NP_000118.2:p.Thr317=
Search 100 bp 5'
Search 100 bp 3'