LDH info

Canonical Allele Identifier: CA229585
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102703
dbSNP Id: rs77554925

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866605T>C , CM000674.2:g.102866605T>C GRCh38
NC_000012.11:g.103260383T>C , CM000674.1:g.103260383T>C GRCh37
NC_000012.10:g.101784513T>C NCBI36
NG_008690.1:g.55998A>G
NG_008690.2:g.96806A>G

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.500A>G VV NP_000268.1:p.Asn167Ser
XM_011538422.1:c.500A>G XP_011536724.1:p.Asn167Ser
NM_000277.2:c.500A>G VV NP_000268.1:p.Asn167Ser
NM_001354304.1:c.500A>G VV NP_001341233.1:p.Asn167Ser
XM_017019370.2:c.500A>G XP_016874859.1:p.Asn167Ser
NM_000277.3:c.500A>G VV MANE Preferred NP_000268.1:p.Asn167Ser
NM_001354304.2:c.500A>G VV NP_001341233.1:p.Asn167Ser
ENST00000307000.7:c.485A>G ENSP00000303500.2:p.Asn162Ser
ENST00000549111.5:n.596A>G
ENST00000551988.5:n.530+10857A>G
ENST00000553106.5:c.500A>G ENSP00000448059.1:p.Asn167Ser