Canonical Allele Identifier: CA363043128
Gene: ZFP57 HGNC NCBI

Linked Data

dbSNP Id: rs1206154386
gnomAD v2: 6-29640427-A-T
gnomAD v4: 6-29672650-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29672650A>T , CM000668.2:g.29672650A>T GRCh38
NC_000006.11:g.29640427A>T , CM000668.1:g.29640427A>T GRCh37
NC_000006.10:g.29748406A>T NCBI36
NG_013045.1:g.9505T>A
NG_031873.1:g.20670A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376883.2:c.1461T>A MANE Select ENSP00000366080.2:p.His487Gln
ENST00000488757.6:c.1245T>A ENSP00000418259.2:p.His415Gln
ENST00000376881.4:c.1209T>A ENSP00000366078.4:p.His403Gln
ENST00000376883.1:c.1401T>A ENSP00000366080.1:p.His467Gln
ENST00000488757.5:c.1461T>A ENSP00000418259.1:p.His487Gln
NM_001109809.2:c.1461T>A NP_001103279.2:p.His487Gln
XM_006715087.2:c.1245T>A XP_006715150.1:p.His415Gln
XM_011514570.1:c.1461T>A XP_011512872.1:p.His487Gln
NM_001109809.3:c.1461T>A NP_001103279.2:p.His487Gln
NM_001366333.1:c.1245T>A NP_001353262.1:p.His415Gln
NM_001109809.4:c.1461T>A NP_001103279.2:p.His487Gln
NM_001366333.2:c.1245T>A NP_001353262.1:p.His415Gln
NM_001109809.5:c.1461T>A MANE Select NP_001103279.2:p.His487Gln