LDH info

Canonical Allele Identifier: CA114360
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 586
dbSNP Id: rs62514891

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917130T>C , CM000674.2:g.102917130T>C GRCh38
NC_000012.11:g.103310908T>C , CM000674.1:g.103310908T>C GRCh37
NC_000012.10:g.101835038T>C NCBI36
NG_008690.1:g.5473A>G
NG_008690.2:g.46281A>G

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1A>G VV
XM_011538422.1:c.1A>G
NM_000277.2:c.1A>G VV
NM_001354304.1:c.1A>G VV
XM_017019370.2:c.1A>G
NM_000277.3:c.1A>G VV MANE Preferred
ENST00000307000.7:c.-147A>G ENSP00000303500.2:p.=
ENST00000546844.1:c.1A>G
ENST00000547319.1:n.312A>G
ENST00000549111.5:n.97A>G
ENST00000551337.5:c.1A>G
ENST00000551988.5:n.90A>G
ENST00000553106.5:c.1A>G
ENST00000635500.1:n.29-4232A>G