Canonical Allele Identifier: CA371914792
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.119122380T>G (hg19) chr8:g.118110141T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110141T>G , CM000670.2:g.118110141T>G GRCh38
NC_000008.10:g.119122380T>G , CM000670.1:g.119122380T>G GRCh37
NC_000008.9:g.119191561T>G NCBI36
NG_007455.2:g.6679A>C , LRG_493:g.6679A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.906A>C MANE Select ENSP00000367446.3:p.Lys302Asn
ENST00000436216.2:c.274A>C
ENST00000378204.6:c.906A>C ENSP00000367446.2:p.Lys302Asn
ENST00000436216.1:c.274A>C
ENST00000437196.1:c.73+833A>C ENSP00000407299.1:n.73+833A>C
NM_000127.2:c.906A>C , LRG_493t1:c.906A>C NP_000118.2:p.Lys302Asn
NM_000127.3:c.906A>C MANE Select NP_000118.2:p.Lys302Asn
Search 100 bp 5'
Search 100 bp 3'