Canonical Allele Identifier: CA275939
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 208181
ClinVar RCV Id: RCV000190377
dbSNP Id: rs796064503

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852821G>A , CM000674.2:g.102852821G>A GRCh38
NC_000012.11:g.103246599G>A , CM000674.1:g.103246599G>A GRCh37
NC_000012.10:g.101770729G>A NCBI36
NG_008690.1:g.69782C>T
NG_008690.2:g.110590C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.836C>T MANE Select ENSP00000448059.1:p.Pro279Leu
ENST00000307000.7:c.821C>T ENSP00000303500.2:p.Pro274Leu
ENST00000549247.6:n.595C>T
ENST00000553106.5:c.836C>T ENSP00000448059.1:p.Pro279Leu
NM_000277.1:c.836C>T NP_000268.1:p.Pro279Leu
XM_011538422.1:c.836C>T XP_011536724.1:p.Pro279Leu
NM_000277.2:c.836C>T NP_000268.1:p.Pro279Leu
NM_001354304.1:c.836C>T NP_001341233.1:p.Pro279Leu
NM_000277.3:c.836C>T MANE Select NP_000268.1:p.Pro279Leu
NM_001354304.2:c.836C>T NP_001341233.1:p.Pro279Leu