Canonical Allele Identifier: CA2688346098
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117819865-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819865C>A , CM000670.2:g.117819865C>A GRCh38
NC_000008.10:g.118832104C>A , CM000670.1:g.118832104C>A GRCh37
NC_000008.9:g.118901285C>A NCBI36
NG_007455.2:g.296955G>T , LRG_493:g.296955G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-71G>T
ENST00000378204.7:c.1418-71G>T MANE Select ENSP00000367446.3:n.1418-71G>T
ENST00000378204.6:c.1418-71G>T ENSP00000367446.2:n.1418-71G>T
ENST00000437196.1:c.*309-71G>T ENSP00000407299.1:n.*309-71G>T
NM_000127.2:c.1418-71G>T , LRG_493t1:c.1418-71G>T NP_000118.2:n.1418-71G>T
NM_000127.3:c.1418-71G>T MANE Select NP_000118.2:n.1418-71G>T
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