LDH info

Canonical Allele Identifier: CA10588686
Gene: JAK3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265205
dbSNP Id: rs886039394

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17837150C>T , CM000681.2:g.17837150C>T GRCh38
NC_000019.9:g.17947959C>T , CM000681.1:g.17947959C>T GRCh37
NC_000019.8:g.17808959C>T NCBI36
NG_007273.1:g.15842G>A , LRG_77:g.15842G>A

Transcript Alleles

HGVS Amino-acid change
NM_000215.3:c.1765G>A , LRG_77t1:c.1765G>A NP_000206.2:p.Gly589Ser
XM_005259896.2:c.1894G>A XP_005259953.1:p.Gly632Ser
XM_006722745.2:c.1765G>A XP_006722808.1:p.Gly589Ser
XM_011527990.1:c.1894G>A XP_011526292.1:p.Gly632Ser
XM_011527991.1:c.1894G>A XP_011526293.1:p.Gly632Ser
XR_430137.2:n.1904G>A
XM_005259896.3:c.1894G>A XP_005259953.1:p.Gly632Ser
XM_011527991.2:c.1894G>A XP_011526293.1:p.Gly632Ser
NM_000215.4:c.1765G>A VV MANE Preferred NP_000206.2:p.Gly589Ser
ENST00000458235.5:c.1765G>A ENSP00000391676.1:p.Gly589Ser
ENST00000527031.5:n.1855G>A
ENST00000527670.5:c.1765G>A ENSP00000432511.1:p.Gly589Ser
ENST00000534444.1:c.1765G>A ENSP00000436421.1:p.Gly589Ser