Canonical Allele Identifier: CA151329
Community Standard Title: NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88435301G>A , CM000678.2:g.88435301G>A GRCh38
NC_000016.9:g.88501709G>A , CM000678.1:g.88501709G>A GRCh37
NC_000016.8:g.87029210G>A NCBI36
NG_012236.2:g.12831G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.7831G>A MANE Select NP_001354553.1:p.Glu2611Lys
ENST00000565624.3:c.7831G>A MANE Select ENSP00000456500.2:p.Glu2611Lys
NM_001127464.2:c.7747G>A NP_001120936.2:p.Glu2583Lys
NM_001367624.1:c.7831G>A NP_001354553.1:p.Glu2611Lys
ENST00000437464.1:c.7747G>A ENSP00000402343.1:p.Glu2583Lys
ENST00000565624.1:c.7831G>A ENSP00000456500.1:p.Glu2611Lys
XM_011523386.1:c.7831G>A XP_011521688.1:p.Glu2611Lys
XM_011523387.1:c.7831G>A XP_011521689.1:p.Glu2611Lys
XM_011523388.1:c.7831G>A XP_011521690.1:p.Glu2611Lys
XM_017023784.1:c.7831G>A XP_016879273.1:p.Glu2611Lys
XM_017023785.1:c.7831G>A XP_016879274.1:p.Glu2611Lys