Canonical Allele Identifier: CA917053
Gene: ZZZ3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77632213G>A , CM000663.2:g.77632213G>A GRCh38
NC_000001.10:g.78097898G>A , CM000663.1:g.78097898G>A GRCh37
NC_000001.9:g.77870486G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015534.6:c.1142C>T MANE Select NP_056349.1:p.Ser381Leu
ENST00000370801.8:c.1142C>T MANE Select ENSP00000359837.3:p.Ser381Leu
NM_001308237.1:c.23+7236C>T NP_001295166.1:n.23+7236C>T
NM_001308237.2:c.23+7236C>T NP_001295166.1:n.23+7236C>T
NM_001376146.1:c.1142C>T NP_001363075.1:p.Ser381Leu
NM_001376147.1:c.1142C>T NP_001363076.1:p.Ser381Leu
NM_001376148.1:c.1142C>T NP_001363077.1:p.Ser381Leu
NM_001376149.1:c.1142C>T NP_001363078.1:p.Ser381Leu
NM_001376151.1:c.1142C>T NP_001363080.1:p.Ser381Leu
NM_001376153.1:c.1142C>T NP_001363082.1:p.Ser381Leu
NM_001376154.1:c.1142C>T NP_001363083.1:p.Ser381Leu
NM_001376155.1:c.23+7236C>T NP_001363084.1:n.23+7236C>T
NM_001376156.1:c.23+7236C>T NP_001363085.1:n.23+7236C>T
NM_015534.4:c.1142C>T NP_056349.1:p.Ser381Leu
NM_015534.5:c.1142C>T NP_056349.1:p.Ser381Leu
NR_164775.1:n.1681C>T
NR_164776.1:n.1618C>T
NR_164777.1:n.1555C>T
ENST00000370798.5:c.23+7236C>T ENSP00000359834.1:n.23+7236C>T
ENST00000370801.7:c.1142C>T ENSP00000359837.3:p.Ser381Leu
ENST00000476275.5:n.664C>T
XM_005270725.2:c.1142C>T XP_005270782.1:p.Ser381Leu
XM_005270725.3:c.1142C>T XP_005270782.1:p.Ser381Leu
XM_005270726.2:c.1142C>T XP_005270783.1:p.Ser381Leu
XM_005270726.3:c.1142C>T XP_005270783.1:p.Ser381Leu
XM_005270727.2:c.1142C>T XP_005270784.1:p.Ser381Leu
XM_005270727.4:c.1142C>T XP_005270784.1:p.Ser381Leu
XM_005270729.3:c.23+7236C>T XP_005270786.1:n.23+7236C>T
XM_005270729.4:c.23+7236C>T XP_005270786.1:n.23+7236C>T
XM_011541205.1:c.1142C>T XP_011539507.1:p.Ser381Leu
XM_017000970.2:c.1142C>T XP_016856459.1:p.Ser381Leu
XM_017000972.1:c.23+7236C>T XP_016856461.1:n.23+7236C>T
XM_024446298.1:c.23+7236C>T XP_024302066.1:n.23+7236C>T
XR_001737103.1:n.1693C>T
XR_001737104.1:n.1693C>T
XR_946600.1:n.1693C>T