LDH info

Canonical Allele Identifier: CA290287500
Gene: HNF1B HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs4430796
MyVariant Identifiers: chr17:g.37738049A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37738049A>G , CM000679.2:g.37738049A>G GRCh38
NG_013019.2:g.12058T>C

Transcript Alleles

HGVS Amino-acid change
NM_000458.3:c.544+1391T>C VV NP_000449.1:p.=
NM_001165923.3:c.544+1391T>C VV NP_001159395.1:p.=
NM_001304286.1:c.544+1391T>C VV NP_001291215.1:p.=
XM_011525160.1:c.544+1391T>C XP_011523462.1:p.=
XM_011525161.1:c.544+1391T>C XP_011523463.1:p.=
XM_011525162.1:c.544+1391T>C XP_011523464.1:p.=
XM_011525163.1:c.544+1391T>C XP_011523465.1:p.=
XM_011525164.1:c.544+1391T>C XP_011523466.1:p.=
XM_011525162.2:c.544+1391T>C XP_011523464.1:p.=
XM_011525163.2:c.544+1391T>C XP_011523465.1:p.=
NM_000458.4:c.544+1391T>C VV MANE Preferred NP_000449.1:p.=
NM_001165923.4:c.544+1391T>C VV NP_001159395.1:p.=
NM_001304286.2:c.544+1391T>C VV NP_001291215.1:p.=
ENST00000613727.4:c.544+1391T>C ENSP00000477524.1:p.=
ENST00000614313.4:c.544+1391T>C ENSP00000482529.1:p.=
ENST00000617272.4:c.544+1391T>C ENSP00000478682.1:p.=
ENST00000617811.4:c.544+1391T>C ENSP00000480291.1:p.=
ENST00000620125.1:c.544+1391T>C ENSP00000481245.1:p.=
ENST00000621123.4:c.544+1391T>C ENSP00000482711.1:p.=