Canonical Allele Identifier: CA386493328
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1724035
ClinVar RCV Id: RCV002306590
MyVariant Identifiers: chr12:g.103237536T>A (hg19) chr12:g.102843758T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843758T>A , CM000674.2:g.102843758T>A GRCh38
NC_000012.11:g.103237536T>A , CM000674.1:g.103237536T>A GRCh37
NC_000012.10:g.101761666T>A NCBI36
NG_008690.1:g.78845A>T
NG_008690.2:g.119653A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1087A>T MANE Select ENSP00000448059.1:p.Lys363Ter
ENST00000307000.7:c.1072A>T ENSP00000303500.2:p.Lys358Ter
ENST00000549247.6:n.846A>T
ENST00000551114.2:n.749A>T
ENST00000553106.5:c.1087A>T ENSP00000448059.1:p.Lys363Ter
ENST00000635477.1:c.191A>T
ENST00000635528.1:n.602A>T
NM_000277.1:c.1087A>T NP_000268.1:p.Lys363Ter
XM_011538422.1:c.1030A>T XP_011536724.1:p.Lys344Ter
NM_000277.2:c.1087A>T NP_000268.1:p.Lys363Ter
NM_001354304.1:c.1087A>T NP_001341233.1:p.Lys363Ter
NM_000277.3:c.1087A>T MANE Select NP_000268.1:p.Lys363Ter
NM_001354304.2:c.1087A>T NP_001341233.1:p.Lys363Ter
Search 100 bp 5'
Search 100 bp 3'