Canonical Allele Identifier: CA369669831
Community Standard Title: NM_003461.5(ZYX):c.298A>C (p.Ile100Leu)
Gene: ZYX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143382337A>C , CM000669.2:g.143382337A>C GRCh38
NC_000007.13:g.143079430A>C , CM000669.1:g.143079430A>C GRCh37
NC_000007.12:g.142789552A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003461.5:c.298A>C MANE Select NP_003452.1:p.Ile100Leu
ENST00000322764.10:c.298A>C MANE Select ENSP00000324422.5:p.Ile100Leu
NM_001010972.1:c.298A>C NP_001010972.1:p.Ile100Leu
NM_001010972.2:c.298A>C NP_001010972.1:p.Ile100Leu
NM_001362783.1:c.298A>C NP_001349712.1:p.Ile100Leu
NM_001362783.2:c.298A>C NP_001349712.1:p.Ile100Leu
NM_003461.4:c.298A>C NP_003452.1:p.Ile100Leu
ENST00000322764.9:c.298A>C ENSP00000324422.5:p.Ile100Leu
ENST00000354434.8:c.295A>C ENSP00000346417.4:p.Ile99Leu
ENST00000392910.6:c.-174A>C ENSP00000376642.2:n.-174A>C
ENST00000449630.5:c.205A>C ENSP00000413467.1:p.Ile69Leu
ENST00000457235.5:c.298A>C ENSP00000400537.1:p.Ile100Leu
ENST00000468083.1:n.363A>C
ENST00000477373.1:n.64+246A>C
XM_011516567.1:c.478A>C XP_011514869.1:p.Ile160Leu
XM_011516568.1:c.475A>C XP_011514870.1:p.Ile159Leu
XM_011516569.1:c.478A>C XP_011514871.1:p.Ile160Leu
XM_017012587.2:c.475A>C XP_016868076.1:p.Ile159Leu