Canonical Allele Identifier: CA369699468
Gene: NOBOX HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.144097232A>T (hg19) chr7:g.144400139A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.144400139A>T , CM000669.2:g.144400139A>T GRCh38
NC_000007.13:g.144097232A>T , CM000669.1:g.144097232A>T GRCh37
NC_000007.12:g.143728165A>T NCBI36
NG_028979.1:g.15089T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643164.1:c.144+67T>A ENSP00000495343.1:n.144+67T>A
ENST00000645489.1:c.696+67T>A ENSP00000496732.1:n.696+67T>A
ENST00000467773.1:c.1018T>A MANE Select ENSP00000419457.1:p.Leu340Met
ENST00000483238.5:c.951+67T>A ENSP00000419565.1:n.951+67T>A
NM_001080413.3:c.1018T>A MANE Select NP_001073882.3:p.Leu340Met
XM_011515791.1:c.696+67T>A XP_011514093.1:n.696+67T>A
XM_017011742.2:c.951+67T>A XP_016867231.1:n.951+67T>A
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