LDH info

Canonical Allele Identifier: CA258314
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587258
ClinVar RCV Id: RCV000021193
dbSNP Id: rs104886077

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108578292del , CM000685.2:g.108578292del GRCh38
NC_000023.10:g.107821522del , CM000685.1:g.107821522del GRCh37
NC_000023.9:g.107708178del NCBI36
NG_011977.1:g.143369del
NG_011977.2:g.143369del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.689del VV
NM_033380.2:c.689del VV
XM_005262070.2:c.689del
XM_005262072.3:c.689del
XM_006724616.2:c.689del
XM_011530849.1:c.365del
XM_011530850.1:c.689del
XM_011530849.2:c.704del
XM_017029259.2:c.704del
XM_017029260.1:c.704del
XM_017029261.1:c.704del
XM_017029262.2:c.704del
NM_000495.5:c.689del VV
NM_033380.3:c.689del VV MANE Preferred
ENST00000328300.10:c.689del
ENST00000361603.6:c.689del