Canonical Allele Identifier: CA495445493
Community Standard Title: NM_001379286.1(ZNF423):c.948C>T (p.Asn316=)
Gene: ZNF423 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49638228G>A , CM000678.2:g.49638228G>A GRCh38
NC_000016.9:g.49672139G>A , CM000678.1:g.49672139G>A GRCh37
NC_000016.8:g.48229640G>A NCBI36
NG_032972.1:g.224692C>T
NG_032972.2:g.224692C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001379286.1:c.948C>T MANE Select NP_001366215.1:p.Asn316=
ENST00000563137.7:c.948C>T MANE Select ENSP00000455588.3:p.Asn316=
NM_001271620.1:c.744C>T NP_001258549.1:p.Asn248=
NM_001271620.2:c.744C>T NP_001258549.1:p.Asn248=
NM_001330533.1:c.573C>T NP_001317462.1:p.Asn191=
NM_001330533.2:c.573C>T NP_001317462.1:p.Asn191=
NM_015069.3:c.924C>T NP_055884.2:p.Asn308=
NM_015069.4:c.924C>T NP_055884.2:p.Asn308=
NM_015069.5:c.924C>T NP_055884.2:p.Asn308=
ENST00000262383.6:c.924C>T ENSP00000262383.2:p.Asn308=
ENST00000535559.5:c.573C>T ENSP00000442321.1:p.Asn191=
ENST00000561648.5:c.924C>T ENSP00000455426.1:p.Asn308=
ENST00000562520.1:c.744C>T ENSP00000457664.1:p.Asn248=
ENST00000562871.5:c.744C>T ENSP00000457928.1:p.Asn248=
ENST00000563137.6:c.744C>T ENSP00000455588.2:p.Asn248=
ENST00000567169.5:c.573C>T ENSP00000455061.1:p.Asn191=
XM_005255856.3:c.744C>T XP_005255913.1:p.Asn248=
XM_005255856.4:c.744C>T XP_005255913.1:p.Asn248=
XM_005255857.3:c.573C>T XP_005255914.1:p.Asn191=
XM_006721171.2:c.969C>T XP_006721234.1:p.Asn323=
XM_006721171.4:c.969C>T XP_006721234.1:p.Asn323=
XM_011522962.1:c.1017C>T XP_011521264.1:p.Asn339=
XM_017023076.2:c.948C>T XP_016878565.1:p.Asn316=
XM_017023077.1:c.744C>T XP_016878566.1:p.Asn248=
XM_017023078.1:c.744C>T XP_016878567.1:p.Asn248=