Canonical Allele Identifier: CA2688346766
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117836961-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117836961G>A , CM000670.2:g.117836961G>A GRCh38
NC_000008.10:g.118849200G>A , CM000670.1:g.118849200G>A GRCh37
NC_000008.9:g.118918381G>A NCBI36
NG_007455.2:g.279859C>T , LRG_493:g.279859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.523+147C>T
ENST00000378204.7:c.1056+147C>T MANE Select ENSP00000367446.3:n.1056+147C>T
ENST00000436216.2:c.424+147C>T
ENST00000378204.6:c.1056+147C>T ENSP00000367446.2:n.1056+147C>T
ENST00000436216.1:c.424+147C>T
ENST00000437196.1:c.74-1410C>T ENSP00000407299.1:n.74-1410C>T
NM_000127.2:c.1056+147C>T , LRG_493t1:c.1056+147C>T NP_000118.2:n.1056+147C>T
NM_000127.3:c.1056+147C>T MANE Select NP_000118.2:n.1056+147C>T
Search 100 bp 5'
Search 100 bp 3'