Canonical Allele Identifier: CA363043159
Gene: ZFP57 HGNC NCBI

Linked Data

dbSNP Id: rs1181136742
gnomAD v2: 6-29640438-C-T
gnomAD v4: 6-29672661-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29672661C>T , CM000668.2:g.29672661C>T GRCh38
NC_000006.11:g.29640438C>T , CM000668.1:g.29640438C>T GRCh37
NC_000006.10:g.29748417C>T NCBI36
NG_013045.1:g.9494G>A
NG_031873.1:g.20681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376883.2:c.1450G>A MANE Select ENSP00000366080.2:p.Gly484Ser
ENST00000488757.6:c.1234G>A ENSP00000418259.2:p.Gly412Ser
ENST00000376881.4:c.1198G>A ENSP00000366078.4:p.Gly400Ser
ENST00000376883.1:c.1390G>A ENSP00000366080.1:p.Gly464Ser
ENST00000488757.5:c.1450G>A ENSP00000418259.1:p.Gly484Ser
NM_001109809.2:c.1450G>A NP_001103279.2:p.Gly484Ser
XM_006715087.2:c.1234G>A XP_006715150.1:p.Gly412Ser
XM_011514570.1:c.1450G>A XP_011512872.1:p.Gly484Ser
NM_001109809.3:c.1450G>A NP_001103279.2:p.Gly484Ser
NM_001366333.1:c.1234G>A NP_001353262.1:p.Gly412Ser
NM_001109809.4:c.1450G>A NP_001103279.2:p.Gly484Ser
NM_001366333.2:c.1234G>A NP_001353262.1:p.Gly412Ser
NM_001109809.5:c.1450G>A MANE Select NP_001103279.2:p.Gly484Ser