LDH info

Canonical Allele Identifier: CA343000
Gene: PRSS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38365
ClinVar RCV Id: RCV000031922
dbSNP Id: rs397507442

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142750579A>G , CM000669.2:g.142750579A>G GRCh38
NC_000007.13:g.142458430A>G , CM000669.1:g.142458430A>G GRCh37
NC_000007.12:g.142138004A>G NCBI36
NG_008307.3:g.6096A>G

Transcript Alleles

HGVS Amino-acid change
NM_002769.4:c.65A>G VV NP_002760.1:p.Asp22Gly
XM_011516411.1:c.740A>G XP_011514713.1:p.Asp247Gly
NM_002769.5:c.65A>G VV MANE Preferred NP_002760.1:p.Asp22Gly
ENST00000311737.11:c.65A>G ENSP00000308720.7:p.Asp22Gly
ENST00000485223.1:n.54-50A>G
ENST00000486171.5:c.65A>G ENSP00000417854.1:p.Asp22Gly
ENST00000497041.1:n.69A>G
ENST00000610416.2:c.370+29393A>G ENSP00000482915.1:p.=
ENST00000612126.4:c.65A>G ENSP00000479959.1:p.Asp22Gly
ENST00000619214.4:c.65A>G ENSP00000481361.1:p.Asp22Gly
ENST00000633114.1:c.65A>G ENSP00000487822.1:p.Asp22Gly
ENST00000634019.1:c.82+1788A>G ENSP00000488594.1:p.=