Canonical Allele Identifier: CA386302255

Gene: PAH

Linked Data

• gnomAD v4: 12-102877540-G-C
• MyVariant Identifiers: chr12:g.103271318G>C (hg19) ; chr12:g.102877540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877540G>C , CM000674.2:g.102877540G>C	GRCh38
NC_000012.11:g.103271318G>C , CM000674.1:g.103271318G>C	GRCh37
NC_000012.10:g.101795448G>C	NCBI36
NG_008690.1:g.45063C>G
NG_008690.2:g.85871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.363C>G MANE Select	ENSP00000448059.1:p.Phe121Leu
ENST00000307000.7:c.348C>G	ENSP00000303500.2:p.Phe116Leu
ENST00000549111.5:n.459C>G
ENST00000550978.6:c.347C>G
ENST00000551337.5:c.363C>G	ENSP00000447620.1:p.Phe121Leu
ENST00000551988.5:n.452C>G
ENST00000553106.5:c.363C>G	ENSP00000448059.1:p.Phe121Leu
NM_000277.1:c.363C>G	NP_000268.1:p.Phe121Leu
XM_011538422.1:c.363C>G	XP_011536724.1:p.Phe121Leu
NM_000277.2:c.363C>G	NP_000268.1:p.Phe121Leu
NM_001354304.1:c.363C>G	NP_001341233.1:p.Phe121Leu
XM_017019370.2:c.363C>G	XP_016874859.1:p.Phe121Leu
NM_000277.3:c.363C>G MANE Select	NP_000268.1:p.Phe121Leu
NM_001354304.2:c.363C>G	NP_001341233.1:p.Phe121Leu