Canonical Allele Identifier: CA495446069
Community Standard Title: NM_001379286.1(ZNF423):c.588T>C (p.His196=)
Gene: ZNF423 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49638588A>G , CM000678.2:g.49638588A>G GRCh38
NC_000016.9:g.49672499A>G , CM000678.1:g.49672499A>G GRCh37
NC_000016.8:g.48230000A>G NCBI36
NG_032972.1:g.224332T>C
NG_032972.2:g.224332T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001379286.1:c.588T>C MANE Select NP_001366215.1:p.His196=
ENST00000563137.7:c.588T>C MANE Select ENSP00000455588.3:p.His196=
NM_001271620.1:c.384T>C NP_001258549.1:p.His128=
NM_001271620.2:c.384T>C NP_001258549.1:p.His128=
NM_001330533.1:c.213T>C NP_001317462.1:p.His71=
NM_001330533.2:c.213T>C NP_001317462.1:p.His71=
NM_015069.3:c.564T>C NP_055884.2:p.His188=
NM_015069.4:c.564T>C NP_055884.2:p.His188=
NM_015069.5:c.564T>C NP_055884.2:p.His188=
ENST00000262383.6:c.564T>C ENSP00000262383.2:p.His188=
ENST00000535559.5:c.213T>C ENSP00000442321.1:p.His71=
ENST00000561648.5:c.564T>C ENSP00000455426.1:p.His188=
ENST00000562520.1:c.384T>C ENSP00000457664.1:p.His128=
ENST00000562871.5:c.384T>C ENSP00000457928.1:p.His128=
ENST00000563137.6:c.384T>C ENSP00000455588.2:p.His128=
ENST00000567169.5:c.213T>C ENSP00000455061.1:p.His71=
XM_005255856.3:c.384T>C XP_005255913.1:p.His128=
XM_005255856.4:c.384T>C XP_005255913.1:p.His128=
XM_005255857.3:c.213T>C XP_005255914.1:p.His71=
XM_006721171.2:c.609T>C XP_006721234.1:p.His203=
XM_006721171.4:c.609T>C XP_006721234.1:p.His203=
XM_011522962.1:c.657T>C XP_011521264.1:p.His219=
XM_017023076.2:c.588T>C XP_016878565.1:p.His196=
XM_017023077.1:c.384T>C XP_016878566.1:p.His128=
XM_017023078.1:c.384T>C XP_016878567.1:p.His128=