Canonical Allele Identifier: CA363043394
Gene: ZFP57 HGNC NCBI

Linked Data

gnomAD v4: 6-29672757-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29672757T>C , CM000668.2:g.29672757T>C GRCh38
NC_000006.11:g.29640534T>C , CM000668.1:g.29640534T>C GRCh37
NC_000006.10:g.29748513T>C NCBI36
NG_013045.1:g.9398A>G
NG_031873.1:g.20777T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376883.2:c.1354A>G MANE Select ENSP00000366080.2:p.Lys452Glu
ENST00000488757.6:c.1138A>G ENSP00000418259.2:p.Lys380Glu
ENST00000376881.4:c.1102A>G ENSP00000366078.4:p.Lys368Glu
ENST00000376883.1:c.1294A>G ENSP00000366080.1:p.Lys432Glu
ENST00000488757.5:c.1354A>G ENSP00000418259.1:p.Lys452Glu
NM_001109809.2:c.1354A>G NP_001103279.2:p.Lys452Glu
XM_006715087.2:c.1138A>G XP_006715150.1:p.Lys380Glu
XM_011514570.1:c.1354A>G XP_011512872.1:p.Lys452Glu
NM_001109809.3:c.1354A>G NP_001103279.2:p.Lys452Glu
NM_001366333.1:c.1138A>G NP_001353262.1:p.Lys380Glu
NM_001109809.4:c.1354A>G NP_001103279.2:p.Lys452Glu
NM_001366333.2:c.1138A>G NP_001353262.1:p.Lys380Glu
NM_001109809.5:c.1354A>G MANE Select NP_001103279.2:p.Lys452Glu