LDH info

Canonical Allele Identifier: CA127084
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17118
dbSNP Id: rs12483377

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45511195G>A , CM000683.2:g.45511195G>A GRCh38
NC_000021.8:g.46931109G>A , CM000683.1:g.46931109G>A GRCh37
NC_000021.7:g.45755537G>A NCBI36
NG_011903.1:g.111004G>A
NG_028278.2:g.56949C>T

Transcript Alleles

HGVS Amino-acid change
NM_030582.3:c.4309G>A (COL18A1) VV NP_085059.2:p.Asp1437Asn
NM_130444.2:c.5014G>A (COL18A1) VV NP_569711.2:p.Asp1672Asn
NM_130445.3:c.3769G>A (COL18A1) VV NP_569712.2:p.Asp1257Asn
XM_011529707.1:c.1585-8226C>T (SLC19A1) XP_011528009.1:p.=
XM_017028445.2:c.1585-8226C>T (SLC19A1) XP_016883934.1:p.=
NM_030582.4:c.4309G>A (COL18A1) VV NP_085059.2:p.Asp1437Asn
NM_130444.3:c.5014G>A (COL18A1) VV NP_569711.2:p.Asp1672Asn
NM_130445.4:c.3769G>A (COL18A1) VV NP_569712.2:p.Asp1257Asn
ENST00000342220.9:n.1822G>A ENSP00000339118.5:p.Asp608Asn
ENST00000355480.9:c.4318G>A ENSP00000347665.5:p.Asp1440Asn
ENST00000359759.8:n.5023G>A ENSP00000352798.4:p.Asp1675Asn
ENST00000400337.6:c.3778G>A ENSP00000383191.2:p.Asp1260Asn
ENST00000417954.5:n.498-12583C>T
ENST00000423214.1:n.732G>A
ENST00000473212.1:n.2104G>A
ENST00000567670.5:c.1294-12583C>T ENSP00000457278.1:p.=