Canonical Allele Identifier: CA481331332
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1081008
ClinVar RCV Id: RCV001396847
MyVariant Identifiers: chr12:g.103246610G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852832G>A , CM000674.2:g.102852832G>A GRCh38
NC_000012.11:g.103246610G>A , CM000674.1:g.103246610G>A GRCh37
NC_000012.10:g.101770740G>A NCBI36
NG_008690.1:g.69771C>T
NG_008690.2:g.110579C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.825C>T MANE Select ENSP00000448059.1:p.Pro275=
ENST00000307000.7:c.810C>T ENSP00000303500.2:p.Pro270=
ENST00000549247.6:n.584C>T
ENST00000553106.5:c.825C>T ENSP00000448059.1:p.Pro275=
NM_000277.1:c.825C>T NP_000268.1:p.Pro275=
XM_011538422.1:c.825C>T XP_011536724.1:p.Pro275=
NM_000277.2:c.825C>T NP_000268.1:p.Pro275=
NM_001354304.1:c.825C>T NP_001341233.1:p.Pro275=
NM_000277.3:c.825C>T MANE Select NP_000268.1:p.Pro275=
NM_001354304.2:c.825C>T NP_001341233.1:p.Pro275=