Canonical Allele Identifier: CA386302260

Gene: PAH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.360G>T MANE Select	ENSP00000448059.1:p.Trp120Cys
ENST00000307000.7:c.345G>T	ENSP00000303500.2:p.Trp115Cys
ENST00000549111.5:n.456G>T
ENST00000550978.6:c.344G>T
ENST00000551337.5:c.360G>T	ENSP00000447620.1:p.Trp120Cys
ENST00000551988.5:n.449G>T
ENST00000553106.5:c.360G>T	ENSP00000448059.1:p.Trp120Cys
NM_000277.1:c.360G>T	NP_000268.1:p.Trp120Cys
XM_011538422.1:c.360G>T	XP_011536724.1:p.Trp120Cys
NM_000277.2:c.360G>T	NP_000268.1:p.Trp120Cys
NM_001354304.1:c.360G>T	NP_001341233.1:p.Trp120Cys
XM_017019370.2:c.360G>T	XP_016874859.1:p.Trp120Cys
NM_000277.3:c.360G>T MANE Select	NP_000268.1:p.Trp120Cys
NM_001354304.2:c.360G>T	NP_001341233.1:p.Trp120Cys