Canonical Allele Identifier: CA8046785
Community Standard Title: NM_001379286.1(ZNF423):c.939C>T (p.Val313=)
Gene: ZNF423 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49638237G>A , CM000678.2:g.49638237G>A GRCh38
NC_000016.9:g.49672148G>A , CM000678.1:g.49672148G>A GRCh37
NC_000016.8:g.48229649G>A NCBI36
NG_032972.1:g.224683C>T
NG_032972.2:g.224683C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001379286.1:c.939C>T MANE Select NP_001366215.1:p.Val313=
ENST00000563137.7:c.939C>T MANE Select ENSP00000455588.3:p.Val313=
NM_001271620.1:c.735C>T NP_001258549.1:p.Val245=
NM_001271620.2:c.735C>T NP_001258549.1:p.Val245=
NM_001330533.1:c.564C>T NP_001317462.1:p.Val188=
NM_001330533.2:c.564C>T NP_001317462.1:p.Val188=
NM_015069.3:c.915C>T NP_055884.2:p.Val305=
NM_015069.4:c.915C>T NP_055884.2:p.Val305=
NM_015069.5:c.915C>T NP_055884.2:p.Val305=
ENST00000262383.6:c.915C>T ENSP00000262383.2:p.Val305=
ENST00000535559.5:c.564C>T ENSP00000442321.1:p.Val188=
ENST00000561648.5:c.915C>T ENSP00000455426.1:p.Val305=
ENST00000562520.1:c.735C>T ENSP00000457664.1:p.Val245=
ENST00000562871.5:c.735C>T ENSP00000457928.1:p.Val245=
ENST00000563137.6:c.735C>T ENSP00000455588.2:p.Val245=
ENST00000567169.5:c.564C>T ENSP00000455061.1:p.Val188=
XM_005255856.3:c.735C>T XP_005255913.1:p.Val245=
XM_005255856.4:c.735C>T XP_005255913.1:p.Val245=
XM_005255857.3:c.564C>T XP_005255914.1:p.Val188=
XM_006721171.2:c.960C>T XP_006721234.1:p.Val320=
XM_006721171.4:c.960C>T XP_006721234.1:p.Val320=
XM_011522962.1:c.1008C>T XP_011521264.1:p.Val336=
XM_017023076.2:c.939C>T XP_016878565.1:p.Val313=
XM_017023077.1:c.735C>T XP_016878566.1:p.Val245=
XM_017023078.1:c.735C>T XP_016878567.1:p.Val245=