Canonical Allele Identifier: CA371914687
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.119122338G>T (hg19) chr8:g.118110099G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110099G>T , CM000670.2:g.118110099G>T GRCh38
NC_000008.10:g.119122338G>T , CM000670.1:g.119122338G>T GRCh37
NC_000008.9:g.119191519G>T NCBI36
NG_007455.2:g.6721C>A , LRG_493:g.6721C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.948C>A MANE Select ENSP00000367446.3:p.Asn316Lys
ENST00000436216.2:c.316C>A
ENST00000378204.6:c.948C>A ENSP00000367446.2:p.Asn316Lys
ENST00000436216.1:c.316C>A
ENST00000437196.1:c.73+875C>A ENSP00000407299.1:n.73+875C>A
NM_000127.2:c.948C>A , LRG_493t1:c.948C>A NP_000118.2:p.Asn316Lys
NM_000127.3:c.948C>A MANE Select NP_000118.2:p.Asn316Lys
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