Canonical Allele Identifier: CA397103064
Community Standard Title: NM_001367624.2(ZNF469):c.5914G>C (p.Gly1972Arg)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88433384G>C , CM000678.2:g.88433384G>C GRCh38
NC_000016.9:g.88499792G>C , CM000678.1:g.88499792G>C GRCh37
NC_000016.8:g.87027293G>C NCBI36
NG_012236.2:g.10914G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.5914G>C MANE Select NP_001354553.1:p.Gly1972Arg
ENST00000565624.3:c.5914G>C MANE Select ENSP00000456500.2:p.Gly1972Arg
NM_001127464.2:c.5830G>C NP_001120936.2:p.Gly1944Arg
NM_001367624.1:c.5914G>C NP_001354553.1:p.Gly1972Arg
ENST00000437464.1:c.5830G>C ENSP00000402343.1:p.Gly1944Arg
ENST00000565624.1:c.5914G>C ENSP00000456500.1:p.Gly1972Arg
XM_011523386.1:c.5914G>C XP_011521688.1:p.Gly1972Arg
XM_011523387.1:c.5914G>C XP_011521689.1:p.Gly1972Arg
XM_011523388.1:c.5914G>C XP_011521690.1:p.Gly1972Arg
XM_017023784.1:c.5914G>C XP_016879273.1:p.Gly1972Arg
XM_017023785.1:c.5914G>C XP_016879274.1:p.Gly1972Arg