Canonical Allele Identifier: CA2688346813
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117837048-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837048A>G , CM000670.2:g.117837048A>G GRCh38
NC_000008.10:g.118849287A>G , CM000670.1:g.118849287A>G GRCh37
NC_000008.9:g.118918468A>G NCBI36
NG_007455.2:g.279772T>C , LRG_493:g.279772T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.523+60T>C
ENST00000378204.7:c.1056+60T>C MANE Select ENSP00000367446.3:n.1056+60T>C
ENST00000436216.2:c.424+60T>C
ENST00000378204.6:c.1056+60T>C ENSP00000367446.2:n.1056+60T>C
ENST00000436216.1:c.424+60T>C
ENST00000437196.1:c.74-1497T>C ENSP00000407299.1:n.74-1497T>C
NM_000127.2:c.1056+60T>C , LRG_493t1:c.1056+60T>C NP_000118.2:n.1056+60T>C
NM_000127.3:c.1056+60T>C MANE Select NP_000118.2:n.1056+60T>C
Search 100 bp 5'
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