Canonical Allele Identifier: CA386302262

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103271321C>T (hg19) ; chr12:g.102877543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877543C>T , CM000674.2:g.102877543C>T	GRCh38
NC_000012.11:g.103271321C>T , CM000674.1:g.103271321C>T	GRCh37
NC_000012.10:g.101795451C>T	NCBI36
NG_008690.1:g.45060G>A
NG_008690.2:g.85868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.360G>A MANE Select	ENSP00000448059.1:p.Trp120Ter
ENST00000307000.7:c.345G>A	ENSP00000303500.2:p.Trp115Ter
ENST00000549111.5:n.456G>A
ENST00000550978.6:c.344G>A
ENST00000551337.5:c.360G>A	ENSP00000447620.1:p.Trp120Ter
ENST00000551988.5:n.449G>A
ENST00000553106.5:c.360G>A	ENSP00000448059.1:p.Trp120Ter
NM_000277.1:c.360G>A	NP_000268.1:p.Trp120Ter
XM_011538422.1:c.360G>A	XP_011536724.1:p.Trp120Ter
NM_000277.2:c.360G>A	NP_000268.1:p.Trp120Ter
NM_001354304.1:c.360G>A	NP_001341233.1:p.Trp120Ter
XM_017019370.2:c.360G>A	XP_016874859.1:p.Trp120Ter
NM_000277.3:c.360G>A MANE Select	NP_000268.1:p.Trp120Ter
NM_001354304.2:c.360G>A	NP_001341233.1:p.Trp120Ter