Canonical Allele Identifier: CA481333579
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1878253075
MyVariant Identifiers: chr12:g.103306583A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912805A>G , CM000674.2:g.102912805A>G GRCh38
NC_000012.11:g.103306583A>G , CM000674.1:g.103306583A>G GRCh37
NC_000012.10:g.101830713A>G NCBI36
NG_008690.1:g.9798T>C
NG_008690.2:g.50606T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.154T>C MANE Select ENSP00000448059.1:p.Leu52=
ENST00000307000.7:c.139T>C ENSP00000303500.2:p.Leu47=
ENST00000546844.1:c.154T>C ENSP00000446658.1:p.Leu52=
ENST00000548677.2:n.241T>C
ENST00000548928.1:n.76T>C
ENST00000549111.5:n.250T>C
ENST00000550978.6:c.138T>C
ENST00000551337.5:c.154T>C ENSP00000447620.1:p.Leu52=
ENST00000551988.5:n.243T>C
ENST00000553106.5:c.154T>C ENSP00000448059.1:p.Leu52=
ENST00000635500.1:n.122T>C
NM_000277.1:c.154T>C NP_000268.1:p.Leu52=
XM_011538422.1:c.154T>C XP_011536724.1:p.Leu52=
NM_000277.2:c.154T>C NP_000268.1:p.Leu52=
NM_001354304.1:c.154T>C NP_001341233.1:p.Leu52=
XM_017019370.2:c.154T>C XP_016874859.1:p.Leu52=
NM_000277.3:c.154T>C MANE Select NP_000268.1:p.Leu52=
NM_001354304.2:c.154T>C NP_001341233.1:p.Leu52=