LDH info

Canonical Allele Identifier: CA260510
Gene: PHEX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36678
dbSNP Id: rs193922459

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047212G>C , CM000685.2:g.22047212G>C GRCh38
NC_000023.10:g.22065330G>C , CM000685.1:g.22065330G>C GRCh37
NC_000023.9:g.21975251G>C NCBI36
NG_007563.2:g.19410G>C

Transcript Alleles

HGVS Amino-acid change
NM_000444.5:c.349+1G>C VV NP_000435.3:p.=
NM_001282754.1:c.349+1G>C VV NP_001269683.1:p.=
XM_011545535.1:c.349+1G>C XP_011543837.1:p.=
XM_017029579.1:c.-94+1G>C XP_016885068.1:p.=
XM_024452390.1:c.58+1G>C XP_024308158.1:p.=
XR_001755695.1:n.1028+1G>C
NM_000444.6:c.349+1G>C VV MANE Preferred NP_000435.3:p.=
NM_001282754.2:c.349+1G>C VV NP_001269683.1:p.=
ENST00000379374.4:c.349+1G>C ENSP00000368682.4:p.=