Canonical Allele Identifier: CA4854007
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs749916031
ExAC: 8:118819518 T / C
gnomAD v2: 8-118819518-T-C
gnomAD v4: 8-117807279-T-C
MyVariant Identifiers: chr8:g.118819518T>C (hg19) chr8:g.117807279T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807279T>C , CM000670.2:g.117807279T>C GRCh38
NC_000008.10:g.118819518T>C , CM000670.1:g.118819518T>C GRCh37
NC_000008.9:g.118888699T>C NCBI36
NG_007455.2:g.309541A>G , LRG_493:g.309541A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1288A>G
ENST00000378204.7:c.1821A>G MANE Select ENSP00000367446.3:p.Gly607=
ENST00000378204.6:c.1821A>G ENSP00000367446.2:p.Gly607=
ENST00000437196.1:c.*712A>G ENSP00000407299.1:n.*712A>G
NM_000127.2:c.1821A>G , LRG_493t1:c.1821A>G NP_000118.2:p.Gly607=
NM_000127.3:c.1821A>G MANE Select NP_000118.2:p.Gly607=
Search 100 bp 5'
Search 100 bp 3'