Canonical Allele Identifier: CA354294719
Gene: ZNF148 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.125233014A>G , CM000665.2:g.125233014A>G GRCh38
NC_000003.11:g.124951858A>G , CM000665.1:g.124951858A>G GRCh37
NC_000003.10:g.126434548A>G NCBI36
NG_052987.1:g.147341T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000471196.2:c.1712T>C ENSP00000420038.2:p.Ile571Thr
ENST00000700044.1:c.1712T>C ENSP00000514760.1:p.Ile571Thr
ENST00000360647.9:c.1712T>C MANE Select ENSP00000353863.4:p.Ile571Thr
ENST00000360647.8:c.1712T>C ENSP00000353863.4:p.Ile571Thr
ENST00000468369.5:c.122-360T>C ENSP00000420102.1:n.122-360T>C
ENST00000484491.5:c.1712T>C ENSP00000420335.1:p.Ile571Thr
ENST00000485866.5:c.1712T>C ENSP00000420448.1:p.Ile571Thr
ENST00000492394.5:c.1712T>C ENSP00000419322.1:p.Ile571Thr
ENST00000496732.1:n.173+95T>C
ENST00000497929.1:n.1708T>C
ENST00000544464.5:c.*345T>C ENSP00000437916.2:n.*345T>C
NM_021964.2:c.1712T>C NP_068799.2:p.Ile571Thr
NM_001348424.1:c.1712T>C NP_001335353.1:p.Ile571Thr
NM_001348425.2:c.1712T>C NP_001335354.1:p.Ile571Thr
NM_001348426.2:c.1712T>C NP_001335355.1:p.Ile571Thr
NM_001348427.2:c.1712T>C NP_001335356.1:p.Ile571Thr
NM_001348428.2:c.1712T>C NP_001335357.1:p.Ile571Thr
NM_001348429.2:c.1712T>C NP_001335358.1:p.Ile571Thr
NM_001348430.2:c.1712T>C NP_001335359.1:p.Ile571Thr
NM_001348431.2:c.1712T>C NP_001335360.1:p.Ile571Thr
NM_001348432.2:c.1712T>C NP_001335361.1:p.Ile571Thr
NM_001348433.2:c.1712T>C NP_001335362.1:p.Ile571Thr
NM_001348434.2:c.1586T>C NP_001335363.1:p.Ile529Thr
NM_021964.3:c.1712T>C MANE Select NP_068799.2:p.Ile571Thr