LDH info

Canonical Allele Identifier: CA7463727
Gene: EMC4 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs116858574

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34228486T>C , CM000677.2:g.34228486T>C GRCh38
NC_000015.9:g.34520687T>C , CM000677.1:g.34520687T>C GRCh37
NC_000015.8:g.32307979T>C NCBI36
NG_007951.1:g.114579A>G , LRG_270:g.114579A>G
NG_054746.1:g.8490T>C

Transcript Alleles

HGVS Amino-acid change
NM_001286420.1:c.355+640T>C VV NP_001273349.1:p.=
NM_016454.3:c.413T>C VV NP_057538.1:p.Ile138Thr
NM_001351373.1:c.170T>C VV NP_001338302.1:p.Ile57Thr
NR_147140.1:n.481+640T>C
NM_016454.4:c.413T>C VV MANE Preferred NP_057538.1:p.Ile138Thr
ENST00000249209.8:c.355+640T>C ENSP00000249209.4:p.=
ENST00000267750.8:c.413T>C ENSP00000267750.4:p.Ile138Thr
ENST00000557879.1:c.*358T>C ENSP00000473881.1:p.=
ENST00000558102.1:c.*108+640T>C ENSP00000453880.1:p.=
ENST00000558205.5:c.*166T>C ENSP00000454042.1:p.=
ENST00000559078.5:c.304-480T>C ENSP00000454052.1:p.=
ENST00000559421.1:c.202-1267T>C ENSP00000452672.1:p.=
ENST00000560911.5:c.*166T>C ENSP00000453610.1:p.=
ENST00000560947.1:n.202T>C
ENST00000561246.1:n.1313+662T>C