Canonical Allele Identifier: CA2688347552
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111693-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111693C>T , CM000670.2:g.118111693C>T GRCh38
NC_000008.10:g.119123932C>T , CM000670.1:g.119123932C>T GRCh37
NC_000008.9:g.119193113C>T NCBI36
NG_007455.2:g.5127G>A , LRG_493:g.5127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-647G>A MANE Select ENSP00000367446.3:n.-647G>A
ENST00000378204.6:c.-647G>A ENSP00000367446.2:n.-647G>A
NM_000127.2:c.-647G>A , LRG_493t1:c.-647G>A NP_000118.2:n.-647G>A
NM_000127.3:c.-647G>A MANE Select NP_000118.2:n.-647G>A
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