Canonical Allele Identifier: CA2688346161
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117819941-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819941A>T , CM000670.2:g.117819941A>T GRCh38
NC_000008.10:g.118832180A>T , CM000670.1:g.118832180A>T GRCh37
NC_000008.9:g.118901361A>T NCBI36
NG_007455.2:g.296879T>A , LRG_493:g.296879T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-147T>A
ENST00000378204.7:c.1418-147T>A MANE Select ENSP00000367446.3:n.1418-147T>A
ENST00000378204.6:c.1418-147T>A ENSP00000367446.2:n.1418-147T>A
ENST00000437196.1:c.*309-147T>A ENSP00000407299.1:n.*309-147T>A
NM_000127.2:c.1418-147T>A , LRG_493t1:c.1418-147T>A NP_000118.2:n.1418-147T>A
NM_000127.3:c.1418-147T>A MANE Select NP_000118.2:n.1418-147T>A
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