Canonical Allele Identifier: CA8225591
Community Standard Title: NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88438673A>G , CM000678.2:g.88438673A>G GRCh38
NC_000016.9:g.88505081A>G , CM000678.1:g.88505081A>G GRCh37
NC_000016.8:g.87032582A>G NCBI36
NG_012236.2:g.16203A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.11203A>G MANE Select NP_001354553.1:p.Ser3735Gly
ENST00000565624.3:c.11203A>G MANE Select ENSP00000456500.2:p.Ser3735Gly
NM_001127464.2:c.11119A>G NP_001120936.2:p.Ser3707Gly
NM_001367624.1:c.11203A>G NP_001354553.1:p.Ser3735Gly
ENST00000437464.1:c.11119A>G ENSP00000402343.1:p.Ser3707Gly
ENST00000565624.1:c.11203A>G ENSP00000456500.1:p.Ser3735Gly
XM_011523386.1:c.11203A>G XP_011521688.1:p.Ser3735Gly
XM_011523387.1:c.11203A>G XP_011521689.1:p.Ser3735Gly
XM_011523388.1:c.11203A>G XP_011521690.1:p.Ser3735Gly
XM_017023784.1:c.11203A>G XP_016879273.1:p.Ser3735Gly
XM_017023785.1:c.11203A>G XP_016879274.1:p.Ser3735Gly