Canonical Allele Identifier: CA8224576

Gene: ZNF469

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88427686G>T , CM000678.2:g.88427686G>T	GRCh38
NC_000016.9:g.88494094G>T , CM000678.1:g.88494094G>T	GRCh37
NC_000016.8:g.87021595G>T	NCBI36
NG_012236.2:g.5216G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001367624.2:c.216G>T MANE Select	NP_001354553.1:p.Glu72Asp
ENST00000565624.3:c.216G>T MANE Select	ENSP00000456500.2:p.Glu72Asp
NM_001127464.2:c.216G>T	NP_001120936.2:p.Glu72Asp
NM_001367624.1:c.216G>T	NP_001354553.1:p.Glu72Asp
ENST00000437464.1:c.216G>T	ENSP00000402343.1:p.Glu72Asp
ENST00000565624.1:c.216G>T	ENSP00000456500.1:p.Glu72Asp
XM_011523386.1:c.216G>T	XP_011521688.1:p.Glu72Asp
XM_011523387.1:c.216G>T	XP_011521689.1:p.Glu72Asp
XM_011523388.1:c.216G>T	XP_011521690.1:p.Glu72Asp
XM_017023784.1:c.216G>T	XP_016879273.1:p.Glu72Asp
XM_017023785.1:c.216G>T	XP_016879274.1:p.Glu72Asp
XR_002957934.1:n.250+2278C>A