Canonical Allele Identifier: CA8220193
Community Standard Title: NM_015144.3(ZCCHC14):c.1213G>A (p.Ala405Thr)
Gene: ZCCHC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87417630C>T , CM000678.2:g.87417630C>T GRCh38
NC_000016.9:g.87451236C>T , CM000678.1:g.87451236C>T GRCh37
NC_000016.8:g.86008737C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015144.3:c.1213G>A MANE Select NP_055959.2:p.Ala405Thr
ENST00000671377.2:c.1213G>A MANE Select ENSP00000499622.1:p.Ala405Thr
NM_015144.2:c.802G>A NP_055959.1:p.Ala268Thr
ENST00000268616.8:c.802G>A ENSP00000268616.4:p.Ala268Thr
ENST00000268616.9:c.802G>A ENSP00000268616.4:p.Ala268Thr
ENST00000561928.1:c.452G>A
ENST00000565193.1:n.297G>A
ENST00000568020.5:c.802G>A ENSP00000455431.1:p.Ala268Thr
ENST00000568020.6:c.834G>A
XM_005255858.3:c.802G>A XP_005255915.2:p.Ala268Thr
XM_011522963.1:c.1213G>A XP_011521265.1:p.Ala405Thr
XM_011522964.1:c.1213G>A XP_011521266.1:p.Ala405Thr
XM_011522964.2:c.1213G>A XP_011521266.1:p.Ala405Thr
XM_017023082.2:c.694G>A XP_016878571.1:p.Ala232Thr
XR_243401.3:n.1020G>A