Canonical Allele Identifier: CA4854284
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs562494313
ExAC: 8:119122281 G / A
gnomAD v2: 8-119122281-G-A
gnomAD v3: 8-118110042-G-A
gnomAD v4: 8-118110042-G-A
MyVariant Identifiers: chr8:g.119122281G>A (hg19) chr8:g.118110042G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110042G>A , CM000670.2:g.118110042G>A GRCh38
NC_000008.10:g.119122281G>A , CM000670.1:g.119122281G>A GRCh37
NC_000008.9:g.119191462G>A NCBI36
NG_007455.2:g.6778C>T , LRG_493:g.6778C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.962+43C>T MANE Select ENSP00000367446.3:n.962+43C>T
ENST00000436216.2:c.330+43C>T
ENST00000378204.6:c.962+43C>T ENSP00000367446.2:n.962+43C>T
ENST00000436216.1:c.330+43C>T
ENST00000437196.1:c.73+932C>T ENSP00000407299.1:n.73+932C>T
NM_000127.2:c.962+43C>T , LRG_493t1:c.962+43C>T NP_000118.2:n.962+43C>T
NM_000127.3:c.962+43C>T MANE Select NP_000118.2:n.962+43C>T
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