LDH info

Canonical Allele Identifier: CA16041099
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370620
ClinVar RCV Id: RCV000410259
dbSNP Id: rs1057516634

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661696del , CM000669.2:g.107661696del GRCh38
NC_000007.13:g.107302141del , CM000669.1:g.107302141del GRCh37
NC_000007.12:g.107089377del NCBI36
NG_008489.1:g.6062del

Transcript Alleles

HGVS Amino-acid change
NM_000441.1:c.55del (SLC26A4) VV NP_000432.1:p.Ser19AlafsTer?
NR_028137.1:n.103del (SLC26A4-AS1)
XM_005250425.1:c.55del (SLC26A4) XP_005250482.1:p.Ser19AlafsTer?
XM_006716025.2:c.55del (SLC26A4) XP_006716088.1:p.Ser19AlafsTer?
XM_005250425.2:c.55del (SLC26A4) XP_005250482.1:p.Ser19AlafsTer?
XM_006716025.3:c.55del (SLC26A4) XP_006716088.1:p.Ser19AlafsTer?
XM_017012318.1:c.55del (SLC26A4) XP_016867807.1:p.Ser19AlafsTer?
ENST00000265715.7:c.55del ENSP00000265715.3:p.Ser19AlafsTer?
ENST00000440056.1:c.55del ENSP00000394760.1:p.Ser19AlafsTer?