LDH info

Canonical Allele Identifier: CA251532
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 596
dbSNP Id: rs62514952

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852843C>A , CM000674.2:g.102852843C>A GRCh38
NC_000012.11:g.103246621C>A , CM000674.1:g.103246621C>A GRCh37
NC_000012.10:g.101770751C>A NCBI36
NG_008690.1:g.69760G>T
NG_008690.2:g.110568G>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.814G>T VV NP_000268.1:p.Gly272Ter
XM_011538422.1:c.814G>T XP_011536724.1:p.Gly272Ter
NM_000277.2:c.814G>T VV NP_000268.1:p.Gly272Ter
NM_001354304.1:c.814G>T VV NP_001341233.1:p.Gly272Ter
NM_000277.3:c.814G>T VV MANE Preferred NP_000268.1:p.Gly272Ter
NM_001354304.2:c.814G>T VV NP_001341233.1:p.Gly272Ter
ENST00000307000.7:c.799G>T ENSP00000303500.2:p.Gly267Ter
ENST00000549247.6:n.573G>T
ENST00000553106.5:c.814G>T ENSP00000448059.1:p.Gly272Ter