Canonical Allele Identifier: CA2579235216
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117837066-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837066C>G , CM000670.2:g.117837066C>G GRCh38
NC_000008.10:g.118849305C>G , CM000670.1:g.118849305C>G GRCh37
NC_000008.9:g.118918486C>G NCBI36
NG_007455.2:g.279754G>C , LRG_493:g.279754G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.523+42G>C
ENST00000378204.7:c.1056+42G>C MANE Select ENSP00000367446.3:n.1056+42G>C
ENST00000436216.2:c.424+42G>C
ENST00000378204.6:c.1056+42G>C ENSP00000367446.2:n.1056+42G>C
ENST00000436216.1:c.424+42G>C
ENST00000437196.1:c.74-1515G>C ENSP00000407299.1:n.74-1515G>C
NM_000127.2:c.1056+42G>C , LRG_493t1:c.1056+42G>C NP_000118.2:n.1056+42G>C
NM_000127.3:c.1056+42G>C MANE Select NP_000118.2:n.1056+42G>C
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