LDH info

Canonical Allele Identifier: CA4651588
Gene: NAT2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 375653
ClinVar RCV Id: RCV000417176
dbSNP Id: rs1041983

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400285C>T , CM000670.2:g.18400285C>T GRCh38
NC_000008.10:g.18257795C>T , CM000670.1:g.18257795C>T GRCh37
NC_000008.9:g.18302075C>T NCBI36
NG_012246.1:g.14041C>T

Transcript Alleles

HGVS Amino-acid change
NM_000015.2:c.282C>T VV NP_000006.2:p.Tyr94=
XM_011544358.1:c.282C>T XP_011542660.1:p.Tyr94=
XM_017012938.1:c.282C>T XP_016868427.1:p.Tyr94=
NM_000015.3:c.282C>T VV MANE Preferred NP_000006.2:p.Tyr94=
ENST00000286479.3:c.282C>T ENSP00000286479.3:p.Tyr94=
ENST00000520116.1:c.-57-52C>T ENSP00000428416.1:p.=