Canonical Allele Identifier: CA369699438
Gene: NOBOX HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.144097228T>G (hg19) chr7:g.144400135T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.144400135T>G , CM000669.2:g.144400135T>G GRCh38
NC_000007.13:g.144097228T>G , CM000669.1:g.144097228T>G GRCh37
NC_000007.12:g.143728161T>G NCBI36
NG_028979.1:g.15093A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643164.1:c.144+71A>C ENSP00000495343.1:n.144+71A>C
ENST00000645489.1:c.696+71A>C ENSP00000496732.1:n.696+71A>C
ENST00000467773.1:c.1022A>C MANE Select ENSP00000419457.1:p.Gln341Pro
ENST00000483238.5:c.951+71A>C ENSP00000419565.1:n.951+71A>C
NM_001080413.3:c.1022A>C MANE Select NP_001073882.3:p.Gln341Pro
XM_011515791.1:c.696+71A>C XP_011514093.1:n.696+71A>C
XM_017011742.2:c.951+71A>C XP_016867231.1:n.951+71A>C
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