Canonical Allele Identifier: CA363043108
Gene: ZFP57 HGNC NCBI

Linked Data

dbSNP Id: rs1247421177
gnomAD v2: 6-29640420-G-A
gnomAD v4: 6-29672643-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29672643G>A , CM000668.2:g.29672643G>A GRCh38
NC_000006.11:g.29640420G>A , CM000668.1:g.29640420G>A GRCh37
NC_000006.10:g.29748399G>A NCBI36
NG_013045.1:g.9512C>T
NG_031873.1:g.20663G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376883.2:c.1468C>T MANE Select ENSP00000366080.2:p.Pro490Ser
ENST00000488757.6:c.1252C>T ENSP00000418259.2:p.Pro418Ser
ENST00000376881.4:c.1216C>T ENSP00000366078.4:p.Pro406Ser
ENST00000376883.1:c.1408C>T ENSP00000366080.1:p.Pro470Ser
ENST00000488757.5:c.1468C>T ENSP00000418259.1:p.Pro490Ser
NM_001109809.2:c.1468C>T NP_001103279.2:p.Pro490Ser
XM_006715087.2:c.1252C>T XP_006715150.1:p.Pro418Ser
XM_011514570.1:c.1468C>T XP_011512872.1:p.Pro490Ser
NM_001109809.3:c.1468C>T NP_001103279.2:p.Pro490Ser
NM_001366333.1:c.1252C>T NP_001353262.1:p.Pro418Ser
NM_001109809.4:c.1468C>T NP_001103279.2:p.Pro490Ser
NM_001366333.2:c.1252C>T NP_001353262.1:p.Pro418Ser
NM_001109809.5:c.1468C>T MANE Select NP_001103279.2:p.Pro490Ser