LDH info

Canonical Allele Identifier: CA8417709
Gene: PEMT HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs7946

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17506246C>T , CM000679.2:g.17506246C>T GRCh38
NC_000017.10:g.17409560C>T , CM000679.1:g.17409560C>T GRCh37
NC_000017.9:g.17350285C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001267551.1:c.568G>A VV NP_001254480.1:p.Val190Met
NM_001267552.1:c.665G>A VV NP_001254481.1:p.Ser222Asn
NM_007169.2:c.523G>A VV NP_009100.2:p.Val175Met
NM_148172.2:c.634G>A VV NP_680477.1:p.Val212Met
NM_148173.1:c.523G>A VV NP_680478.1:p.Val175Met
XM_006721418.2:c.571G>A XP_006721481.2:p.Val191Met
XM_006721418.4:c.571G>A XP_006721481.2:p.Val191Met
XM_017024016.1:c.301G>A XP_016879505.1:p.Val101Met
XM_024450532.1:c.523G>A XP_024306300.1:p.Val175Met
NM_148172.3:c.634G>A VV MANE Preferred NP_680477.1:p.Val212Met
NM_001267551.2:c.568G>A VV NP_001254480.1:p.Val190Met
NM_001267552.2:c.665G>A VV NP_001254481.1:p.Ser222Asn
NM_007169.3:c.523G>A VV NP_009100.2:p.Val175Met
NM_148173.2:c.523G>A VV NP_680478.1:p.Val175Met
ENST00000255389.9:c.634G>A ENSP00000255389.5:p.Val212Met
ENST00000395781.6:c.665G>A ENSP00000379127.2:p.Ser222Asn
ENST00000395782.5:c.523G>A ENSP00000379128.1:p.Val175Met
ENST00000395783.5:c.523G>A ENSP00000379129.1:p.Val175Met
ENST00000435340.6:c.602G>A ENSP00000391288.2:p.Ser201Asn
ENST00000477595.5:n.128G>A
ENST00000484838.6:n.498G>A
ENST00000490392.5:n.368G>A
ENST00000580147.5:c.*132G>A ENSP00000463112.1:p.=
ENST00000582268.5:n.78G>A