Canonical Allele Identifier: CA8219891
Community Standard Title: NM_015144.3(ZCCHC14):c.2270C>T (p.Thr757Met)
Gene: ZCCHC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87412451G>A , CM000678.2:g.87412451G>A GRCh38
NC_000016.9:g.87446057G>A , CM000678.1:g.87446057G>A GRCh37
NC_000016.8:g.86003558G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015144.3:c.2270C>T MANE Select NP_055959.2:p.Thr757Met
ENST00000671377.2:c.2270C>T MANE Select ENSP00000499622.1:p.Thr757Met
NM_015144.2:c.1859C>T NP_055959.1:p.Thr620Met
ENST00000268616.8:c.1859C>T ENSP00000268616.4:p.Thr620Met
ENST00000268616.9:c.1859C>T ENSP00000268616.4:p.Thr620Met
ENST00000561928.1:c.1509C>T
ENST00000568020.5:c.1859C>T ENSP00000455431.1:p.Thr620Met
ENST00000568020.6:c.1891C>T
XM_005255858.3:c.1859C>T XP_005255915.2:p.Thr620Met
XM_017023082.2:c.1751C>T XP_016878571.1:p.Thr584Met
XR_243401.3:n.2077C>T