LDH info

Canonical Allele Identifier: CA9596844
Gene: POLD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 408052
ClinVar RCV Id: RCV000462761
dbSNP Id: rs142223599

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50417924C>T , CM000681.2:g.50417924C>T GRCh38
NC_000019.9:g.50921181C>T , CM000681.1:g.50921181C>T GRCh37
NC_000019.8:g.55612993C>T NCBI36
NG_033800.1:g.38602C>T , LRG_785:g.38602C>T

Transcript Alleles

HGVS Amino-acid change
NM_001256849.1:c.3301C>T , LRG_785t1:c.3301C>T NP_001243778.1:p.Pro1101Ser
NM_001308632.1:n.3379C>T , LRG_785t2:n.3379C>T NP_001295561.1:p.Pro1127Ser
NM_002691.3:c.3301C>T VV NP_002682.2:p.Pro1101Ser
NR_046402.1:n.3267C>T
XM_005259008.3:c.3229C>T XP_005259065.1:p.Pro1077Ser
XM_011527038.1:c.3301C>T XP_011525340.1:p.Pro1101Ser
XM_011527039.1:c.3301C>T XP_011525341.1:p.Pro1101Ser
XM_005259008.4:c.3229C>T XP_005259065.1:p.Pro1077Ser
XM_017026881.1:c.3301C>T XP_016882370.1:p.Pro1101Ser
XM_017026882.2:c.3229C>T XP_016882371.1:p.Pro1077Ser
NM_002691.4:c.3301C>T VV MANE Preferred NP_002682.2:p.Pro1101Ser
NR_046402.2:n.3243C>T
ENST00000440232.6:c.3301C>T ENSP00000406046.1:p.Pro1101Ser
ENST00000595904.5:n.3379C>T ENSP00000472445.1:p.Pro1127Ser
ENST00000596221.1:n.326C>T
ENST00000597963.5:n.645C>T
ENST00000599632.1:n.426+655C>T
ENST00000599857.5:c.3301C>T ENSP00000473052.1:p.Pro1101Ser
ENST00000600859.5:c.*168C>T ENSP00000470726.1:p.=
ENST00000613923.4:c.3379C>T ENSP00000481858.1:p.Pro1127Ser