LDH info

Canonical Allele Identifier: CA160252
Gene: JAK3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36422
dbSNP Id: rs55778349
COSMIC: COSM35867

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17843141G>C , CM000681.2:g.17843141G>C GRCh38
NC_000019.9:g.17953950G>C , CM000681.1:g.17953950G>C GRCh37
NC_000019.8:g.17814950G>C NCBI36
NG_007273.1:g.9851C>G , LRG_77:g.9851C>G

Transcript Alleles

HGVS Amino-acid change
NM_000215.3:c.452C>G , LRG_77t1:c.452C>G NP_000206.2:p.Pro151Arg
XM_005259896.2:c.581C>G XP_005259953.1:p.Pro194Arg
XM_006722745.2:c.452C>G XP_006722808.1:p.Pro151Arg
XM_011527990.1:c.581C>G XP_011526292.1:p.Pro194Arg
XM_011527991.1:c.581C>G XP_011526293.1:p.Pro194Arg
XR_430137.2:n.591C>G
XM_005259896.3:c.581C>G XP_005259953.1:p.Pro194Arg
XM_011527991.2:c.581C>G XP_011526293.1:p.Pro194Arg
NM_000215.4:c.452C>G VV MANE Preferred NP_000206.2:p.Pro151Arg
ENST00000458235.5:c.452C>G ENSP00000391676.1:p.Pro151Arg
ENST00000526008.5:n.552C>G
ENST00000527031.5:n.542C>G
ENST00000527670.5:c.452C>G ENSP00000432511.1:p.Pro151Arg
ENST00000528293.1:n.467C>G
ENST00000534444.1:c.452C>G ENSP00000436421.1:p.Pro151Arg