LDH info

Canonical Allele Identifier: CA10648166
Gene: TYK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 327965
ClinVar RCV Id: RCV000347381
dbSNP Id: rs280500

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10379726A>G , CM000681.2:g.10379726A>G GRCh38
NC_000019.9:g.10490402A>G , CM000681.1:g.10490402A>G GRCh37
NC_000019.8:g.10351402A>G NCBI36
NG_007872.1:g.5847T>C , LRG_121:g.5847T>C

Transcript Alleles

HGVS Amino-acid change
NM_003331.4:c.-132T>C , LRG_121t1:c.-132T>C NP_003322.3:p.=
XM_011528245.1:c.-95-37T>C XP_011526547.1:p.=
XM_011528248.1:c.-132T>C XP_011526550.1:p.=
XM_011528250.1:c.-132T>C XP_011526552.1:p.=
XM_011528252.1:c.-132T>C XP_011526554.1:p.=
XR_001753750.1:n.26T>C
XR_001753751.1:n.26T>C
XR_001753752.1:n.26T>C
XR_002958353.1:n.26T>C
NM_003331.5:c.-132T>C VV MANE Preferred NP_003322.3:p.=
ENST00000524462.5:c.-91+784T>C ENSP00000433203.1:p.=
ENST00000525621.5:c.-132T>C ENSP00000431885.1:p.=
ENST00000529370.5:c.-132T>C ENSP00000432728.1:p.=
ENST00000530829.1:c.-132T>C ENSP00000436826.1:p.=
ENST00000531836.5:c.-95-37T>C ENSP00000436175.1:p.=