LDH info

Canonical Allele Identifier: CA359486263
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36976186G>T , CM000667.2:g.36976186G>T GRCh38
NC_000005.9:g.36976288G>T , CM000667.1:g.36976288G>T GRCh37
NC_000005.8:g.37012045G>T NCBI36
NG_006987.1:g.104304G>T
NG_006987.2:g.104304G>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.1279G>T VV NP_056199.2:p.Ala427Ser
NM_133433.3:c.1279G>T VV NP_597677.2:p.Ala427Ser
XM_005248280.2:c.1279G>T XP_005248337.1:p.Ala427Ser
XM_005248282.3:c.535G>T XP_005248339.2:p.Ala179Ser
XM_006714467.2:c.1279G>T XP_006714530.1:p.Ala427Ser
XM_006714468.1:c.1279G>T XP_006714531.1:p.Ala427Ser
XM_011514014.1:c.1279G>T XP_011512316.1:p.Ala427Ser
XM_011514015.1:c.1279G>T XP_011512317.1:p.Ala427Ser
XM_005248280.3:c.1279G>T XP_005248337.1:p.Ala427Ser
XM_005248282.5:c.619G>T XP_005248339.3:p.Ala207Ser
XM_006714468.2:c.1279G>T XP_006714531.1:p.Ala427Ser
XM_017009329.1:c.1279G>T XP_016864818.1:p.Ala427Ser
XM_017009331.1:c.1279G>T XP_016864820.1:p.Ala427Ser
NM_133433.4:c.1279G>T VV MANE Preferred NP_597677.2:p.Ala427Ser
NM_015384.5:c.1279G>T VV NP_056199.2:p.Ala427Ser
ENST00000282516.12:c.1279G>T ENSP00000282516.8:p.Ala427Ser
ENST00000448238.2:c.1279G>T ENSP00000406266.2:p.Ala427Ser
ENST00000504430.5:n.899G>T
ENST00000621733.1:c.1-88392G>T ENSP00000480694.1:p.=