Canonical Allele Identifier: CA151325
Community Standard Title: NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88432614G>A , CM000678.2:g.88432614G>A GRCh38
NC_000016.9:g.88499022G>A , CM000678.1:g.88499022G>A GRCh37
NC_000016.8:g.87026523G>A NCBI36
NG_012236.2:g.10144G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.5144G>A MANE Select NP_001354553.1:p.Arg1715Lys
ENST00000565624.3:c.5144G>A MANE Select ENSP00000456500.2:p.Arg1715Lys
NM_001127464.2:c.5060G>A NP_001120936.2:p.Arg1687Lys
NM_001367624.1:c.5144G>A NP_001354553.1:p.Arg1715Lys
ENST00000437464.1:c.5060G>A ENSP00000402343.1:p.Arg1687Lys
ENST00000565624.1:c.5144G>A ENSP00000456500.1:p.Arg1715Lys
XM_011523386.1:c.5144G>A XP_011521688.1:p.Arg1715Lys
XM_011523387.1:c.5144G>A XP_011521689.1:p.Arg1715Lys
XM_011523388.1:c.5144G>A XP_011521690.1:p.Arg1715Lys
XM_017023784.1:c.5144G>A XP_016879273.1:p.Arg1715Lys
XM_017023785.1:c.5144G>A XP_016879274.1:p.Arg1715Lys