Canonical Allele Identifier: CA286376109
Community Standard Title: NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88431917G>A , CM000678.2:g.88431917G>A GRCh38
NC_000016.9:g.88498325G>A , CM000678.1:g.88498325G>A GRCh37
NC_000016.8:g.87025826G>A NCBI36
NG_012236.2:g.9447G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.4447G>A MANE Select NP_001354553.1:p.Ala1483Thr
ENST00000565624.3:c.4447G>A MANE Select ENSP00000456500.2:p.Ala1483Thr
NM_001127464.2:c.4363G>A NP_001120936.2:p.Ala1455Thr
NM_001367624.1:c.4447G>A NP_001354553.1:p.Ala1483Thr
ENST00000437464.1:c.4363G>A ENSP00000402343.1:p.Ala1455Thr
ENST00000565624.1:c.4447G>A ENSP00000456500.1:p.Ala1483Thr
XM_011523386.1:c.4447G>A XP_011521688.1:p.Ala1483Thr
XM_011523387.1:c.4447G>A XP_011521689.1:p.Ala1483Thr
XM_011523388.1:c.4447G>A XP_011521690.1:p.Ala1483Thr
XM_017023784.1:c.4447G>A XP_016879273.1:p.Ala1483Thr
XM_017023785.1:c.4447G>A XP_016879274.1:p.Ala1483Thr