LDH info

Canonical Allele Identifier: CA229541
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102669
dbSNP Id: rs199475624

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877464G>A , CM000674.2:g.102877464G>A GRCh38
NC_000012.11:g.103271242G>A , CM000674.1:g.103271242G>A GRCh37
NC_000012.10:g.101795372G>A NCBI36
NG_008690.1:g.45139C>T
NG_008690.2:g.85947C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.439C>T VV NP_000268.1:p.Pro147Ser
XM_011538422.1:c.439C>T XP_011536724.1:p.Pro147Ser
NM_000277.2:c.439C>T VV NP_000268.1:p.Pro147Ser
NM_001354304.1:c.439C>T VV NP_001341233.1:p.Pro147Ser
XM_017019370.2:c.439C>T XP_016874859.1:p.Pro147Ser
NM_000277.3:c.439C>T VV MANE Preferred NP_000268.1:p.Pro147Ser
ENST00000307000.7:c.424C>T ENSP00000303500.2:p.Pro142Ser
ENST00000549111.5:n.535C>T
ENST00000550978.6:n.423C>T
ENST00000551988.5:n.528C>T
ENST00000553106.5:c.439C>T ENSP00000448059.1:p.Pro147Ser