Canonical Allele Identifier: CA369699466
Gene: NOBOX HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000643164.1:c.144+67T>G ENSP00000495343.1:n.144+67T>G
ENST00000645489.1:c.696+67T>G ENSP00000496732.1:n.696+67T>G
ENST00000467773.1:c.1018T>G MANE Select ENSP00000419457.1:p.Leu340Val
ENST00000483238.5:c.951+67T>G ENSP00000419565.1:n.951+67T>G
NM_001080413.3:c.1018T>G MANE Select NP_001073882.3:p.Leu340Val
XM_011515791.1:c.696+67T>G XP_011514093.1:n.696+67T>G
XM_017011742.2:c.951+67T>G XP_016867231.1:n.951+67T>G
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