LDH info

Canonical Allele Identifier: CA12051149
Gene: PRKAA1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10074991

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40790449G>A , CM000667.2:g.40790449G>A GRCh38
NC_000005.9:g.40790551G>A , CM000667.1:g.40790551G>A GRCh37
NC_000005.8:g.40826308G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_006251.5:c.127+7614C>T VV NP_006242.5:p.=
NM_206907.3:c.127+7614C>T VV NP_996790.3:p.=
XM_006714482.1:c.-560+7614C>T XP_006714545.1:p.=
NM_001355028.1:c.-258+7614C>T VV NP_001341957.1:p.=
NM_001355029.1:c.-212+7614C>T VV NP_001341958.1:p.=
NM_001355034.1:c.127+7614C>T VV NP_001341963.1:p.=
NM_001355035.1:c.-560+7614C>T VV NP_001341964.1:p.=
NM_001355036.1:c.-495+7614C>T VV NP_001341965.1:p.=
NM_001355037.1:c.-605+7614C>T VV NP_001341966.1:p.=
ENST00000296800.4:c.100+7614C>T ENSP00000296800.4:p.=
ENST00000354209.7:c.127+7614C>T ENSP00000346148.3:p.=
ENST00000397006.2:n.108+7614C>T
ENST00000397128.6:c.127+7614C>T ENSP00000380317.2:p.=
ENST00000506652.5:n.86+7614C>T
ENST00000509874.5:n.127+7614C>T
ENST00000511248.1:n.97+7614C>T