Canonical Allele Identifier: CA386302303
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103306583A>C (hg19) chr12:g.102912805A>C (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.154T>G MANE Select ENSP00000448059.1:p.Leu52Val
ENST00000307000.7:c.139T>G ENSP00000303500.2:p.Leu47Val
ENST00000546844.1:c.154T>G ENSP00000446658.1:p.Leu52Val
ENST00000548677.2:n.241T>G
ENST00000548928.1:n.76T>G
ENST00000549111.5:n.250T>G
ENST00000550978.6:c.138T>G
ENST00000551337.5:c.154T>G ENSP00000447620.1:p.Leu52Val
ENST00000551988.5:n.243T>G
ENST00000553106.5:c.154T>G ENSP00000448059.1:p.Leu52Val
ENST00000635500.1:n.122T>G
NM_000277.1:c.154T>G NP_000268.1:p.Leu52Val
XM_011538422.1:c.154T>G XP_011536724.1:p.Leu52Val
NM_000277.2:c.154T>G NP_000268.1:p.Leu52Val
NM_001354304.1:c.154T>G NP_001341233.1:p.Leu52Val
XM_017019370.2:c.154T>G XP_016874859.1:p.Leu52Val
NM_000277.3:c.154T>G MANE Select NP_000268.1:p.Leu52Val
NM_001354304.2:c.154T>G NP_001341233.1:p.Leu52Val
Search 100 bp 5'
Search 100 bp 3'