Canonical Allele Identifier: CA3690689

Gene: ZFP57

Linked Data

• dbSNP Id: rs759846876
• ExAC: 6:29640530 T / G
• gnomAD v2: 6-29640530-T-G
• gnomAD v4: 6-29672753-T-G
• MyVariant Identifiers: chr6:g.29640530T>G (hg19) ; chr6:g.29672753T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29672753T>G , CM000668.2:g.29672753T>G	GRCh38
NC_000006.11:g.29640530T>G , CM000668.1:g.29640530T>G	GRCh37
NC_000006.10:g.29748509T>G	NCBI36
NG_013045.1:g.9402A>C
NG_031873.1:g.20773T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376883.2:c.1358A>C MANE Select	ENSP00000366080.2:p.Glu453Ala
ENST00000488757.6:c.1142A>C	ENSP00000418259.2:p.Glu381Ala
ENST00000376881.4:c.1106A>C	ENSP00000366078.4:p.Glu369Ala
ENST00000376883.1:c.1298A>C	ENSP00000366080.1:p.Glu433Ala
ENST00000488757.5:c.1358A>C	ENSP00000418259.1:p.Glu453Ala
NM_001109809.2:c.1358A>C	NP_001103279.2:p.Glu453Ala
XM_006715087.2:c.1142A>C	XP_006715150.1:p.Glu381Ala
XM_011514570.1:c.1358A>C	XP_011512872.1:p.Glu453Ala
NM_001109809.3:c.1358A>C	NP_001103279.2:p.Glu453Ala
NM_001366333.1:c.1142A>C	NP_001353262.1:p.Glu381Ala
NM_001109809.4:c.1358A>C	NP_001103279.2:p.Glu453Ala
NM_001366333.2:c.1142A>C	NP_001353262.1:p.Glu381Ala
NM_001109809.5:c.1358A>C MANE Select	NP_001103279.2:p.Glu453Ala