Canonical Allele Identifier: CA8225134
Community Standard Title: NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88433729G>A , CM000678.2:g.88433729G>A GRCh38
NC_000016.9:g.88500137G>A , CM000678.1:g.88500137G>A GRCh37
NC_000016.8:g.87027638G>A NCBI36
NG_012236.2:g.11259G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.6259G>A MANE Select NP_001354553.1:p.Ala2087Thr
ENST00000565624.3:c.6259G>A MANE Select ENSP00000456500.2:p.Ala2087Thr
NM_001127464.2:c.6175G>A NP_001120936.2:p.Ala2059Thr
NM_001367624.1:c.6259G>A NP_001354553.1:p.Ala2087Thr
ENST00000437464.1:c.6175G>A ENSP00000402343.1:p.Ala2059Thr
ENST00000565624.1:c.6259G>A ENSP00000456500.1:p.Ala2087Thr
XM_011523386.1:c.6259G>A XP_011521688.1:p.Ala2087Thr
XM_011523387.1:c.6259G>A XP_011521689.1:p.Ala2087Thr
XM_011523388.1:c.6259G>A XP_011521690.1:p.Ala2087Thr
XM_017023784.1:c.6259G>A XP_016879273.1:p.Ala2087Thr
XM_017023785.1:c.6259G>A XP_016879274.1:p.Ala2087Thr