Canonical Allele Identifier: CA4854259
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs759284661
ExAC: 8:118849305 C / T
gnomAD v2: 8-118849305-C-T
gnomAD v4: 8-117837066-C-T
MyVariant Identifiers: chr8:g.118849305C>T (hg19) chr8:g.117837066C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837066C>T , CM000670.2:g.117837066C>T GRCh38
NC_000008.10:g.118849305C>T , CM000670.1:g.118849305C>T GRCh37
NC_000008.9:g.118918486C>T NCBI36
NG_007455.2:g.279754G>A , LRG_493:g.279754G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.523+42G>A
ENST00000378204.7:c.1056+42G>A MANE Select ENSP00000367446.3:n.1056+42G>A
ENST00000436216.2:c.424+42G>A
ENST00000378204.6:c.1056+42G>A ENSP00000367446.2:n.1056+42G>A
ENST00000436216.1:c.424+42G>A
ENST00000437196.1:c.74-1515G>A ENSP00000407299.1:n.74-1515G>A
NM_000127.2:c.1056+42G>A , LRG_493t1:c.1056+42G>A NP_000118.2:n.1056+42G>A
NM_000127.3:c.1056+42G>A MANE Select NP_000118.2:n.1056+42G>A
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