LDH info

Canonical Allele Identifier: CA260511
Gene: PHEX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36679
ClinVar RCV Id: RCV000030358
dbSNP Id: rs193922460

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22096989_22096990dup , CM000685.2:g.22096989_22096990dup GRCh38
NC_000023.10:g.22115107_22115108dup , CM000685.1:g.22115107_22115108dup GRCh37
NC_000023.9:g.22025028_22025029dup NCBI36
NG_007563.2:g.69187_69188dup

Transcript Alleles

HGVS Amino-acid change
NM_000444.5:c.884_885dup VV NP_000435.3:p.Met296ProfsTer6
NM_001282754.1:c.884_885dup VV NP_001269683.1:p.Met296ProfsTer6
XM_011545533.1:c.128_129dup XP_011543835.1:p.Met44ProfsTer6
XM_011545534.1:c.128_129dup XP_011543836.1:p.Met44ProfsTer6
XM_011545535.1:c.884_885dup XP_011543837.1:p.Met296ProfsTer6
XM_017029579.1:c.128_129dup XP_016885068.1:p.Met44ProfsTer6
XM_024452390.1:c.593_594dup XP_024308158.1:p.Met199ProfsTer6
XR_001755695.1:n.1563_1564dup
NM_000444.6:c.884_885dup VV MANE Preferred NP_000435.3:p.Met296ProfsTer6
ENST00000379374.4:c.884_885dup ENSP00000368682.4:p.Met296ProfsTer6
ENST00000475778.1:n.157_158dup