Canonical Allele Identifier: CA16020777

Gene: PAH

Linked Data

• ClinVar Variation Id: 2137411
• ClinVar RCV Id: RCV003062537
• MyVariant Identifiers: chr12:g.103271320A>G (hg19) ; chr12:g.102877542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877542A>G , CM000674.2:g.102877542A>G	GRCh38
NC_000012.11:g.103271320A>G , CM000674.1:g.103271320A>G	GRCh37
NC_000012.10:g.101795450A>G	NCBI36
NG_008690.1:g.45061T>C
NG_008690.2:g.85869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.361T>C MANE Select	ENSP00000448059.1:p.Phe121Leu
ENST00000307000.7:c.346T>C	ENSP00000303500.2:p.Phe116Leu
ENST00000549111.5:n.457T>C
ENST00000550978.6:c.345T>C
ENST00000551337.5:c.361T>C	ENSP00000447620.1:p.Phe121Leu
ENST00000551988.5:n.450T>C
ENST00000553106.5:c.361T>C	ENSP00000448059.1:p.Phe121Leu
NM_000277.1:c.361T>C	NP_000268.1:p.Phe121Leu
XM_011538422.1:c.361T>C	XP_011536724.1:p.Phe121Leu
NM_000277.2:c.361T>C	NP_000268.1:p.Phe121Leu
NM_001354304.1:c.361T>C	NP_001341233.1:p.Phe121Leu
XM_017019370.2:c.361T>C	XP_016874859.1:p.Phe121Leu
NM_000277.3:c.361T>C MANE Select	NP_000268.1:p.Phe121Leu
NM_001354304.2:c.361T>C	NP_001341233.1:p.Phe121Leu