LDH info

Canonical Allele Identifier: CA16042149
Gene: PALB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371797
dbSNP Id: rs1057517539

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629214G>T , CM000678.2:g.23629214G>T GRCh38
NC_000016.9:g.23640535G>T , CM000678.1:g.23640535G>T GRCh37
NC_000016.8:g.23548036G>T NCBI36
NG_007406.1:g.17144C>A , LRG_308:g.17144C>A

Transcript Alleles

HGVS Amino-acid change
NM_024675.3:c.2576C>A , LRG_308t1:c.2576C>A NP_078951.2:p.Ser859Ter
XM_011545946.1:c.2582C>A XP_011544248.1:p.Ser861Ter
XM_011545947.1:c.2582C>A XP_011544249.1:p.Ser861Ter
XM_011545948.1:c.1691C>A XP_011544250.1:p.Ser564Ter
XR_950851.1:n.3372C>A
XM_011545946.2:c.2582C>A XP_011544248.1:p.Ser861Ter
XM_011545947.2:c.2582C>A XP_011544249.1:p.Ser861Ter
XM_011545948.2:c.1691C>A XP_011544250.1:p.Ser564Ter
XM_017023671.1:c.2582C>A XP_016879160.1:p.Ser861Ter
XM_017023672.2:c.2576C>A XP_016879161.1:p.Ser859Ter
XM_017023673.2:c.2576C>A XP_016879162.1:p.Ser859Ter
ENST00000261584.8:c.2576C>A ENSP00000261584.4:p.Ser859Ter
ENST00000565038.1:n.148C>A
ENST00000568219.5:c.1691C>A ENSP00000454703.2:p.Ser564Ter