Canonical Allele Identifier: CA462471433
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1246882718
gnomAD v2: 8-119122347-G-A
gnomAD v4: 8-118110108-G-A
MyVariant Identifiers: chr8:g.119122347G>A (hg19) chr8:g.118110108G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110108G>A , CM000670.2:g.118110108G>A GRCh38
NC_000008.10:g.119122347G>A , CM000670.1:g.119122347G>A GRCh37
NC_000008.9:g.119191528G>A NCBI36
NG_007455.2:g.6712C>T , LRG_493:g.6712C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.939C>T MANE Select ENSP00000367446.3:p.Asp313=
ENST00000436216.2:c.307C>T
ENST00000378204.6:c.939C>T ENSP00000367446.2:p.Asp313=
ENST00000436216.1:c.307C>T
ENST00000437196.1:c.73+866C>T ENSP00000407299.1:n.73+866C>T
NM_000127.2:c.939C>T , LRG_493t1:c.939C>T NP_000118.2:p.Asp313=
NM_000127.3:c.939C>T MANE Select NP_000118.2:p.Asp313=
Search 100 bp 5'
Search 100 bp 3'