Canonical Allele Identifier: CA846256061
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1228693349
gnomAD v3: 8-118111568-C-T
gnomAD v4: 8-118111568-C-T
MyVariant Identifiers: chr8:g.119123807C>T (hg19) chr8:g.118111568C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111568C>T , CM000670.2:g.118111568C>T GRCh38
NC_000008.10:g.119123807C>T , CM000670.1:g.119123807C>T GRCh37
NC_000008.9:g.119192988C>T NCBI36
NG_007455.2:g.5252G>A , LRG_493:g.5252G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-522G>A MANE Select ENSP00000367446.3:n.-522G>A
ENST00000378204.6:c.-522G>A ENSP00000367446.2:n.-522G>A
NM_000127.2:c.-522G>A , LRG_493t1:c.-522G>A NP_000118.2:n.-522G>A
NM_000127.3:c.-522G>A MANE Select NP_000118.2:n.-522G>A
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