Canonical Allele Identifier: CA2059445747

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852693G= , CM000674.2:g.102852693G=	GRCh38
NC_000012.11:g.103246471G= , CM000674.1:g.103246471G=	GRCh37
NC_000012.10:g.101770601G=	NCBI36
NG_008690.1:g.69910C=
NG_008690.2:g.110718C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+122C= MANE Select	ENSP00000448059.1:n.842+122C=
ENST00000307000.7:c.827+122C=	ENSP00000303500.2:n.827+122C=
ENST00000549247.6:n.601+122C=
ENST00000553106.5:c.842+122C=	ENSP00000448059.1:n.842+122C=
ENST00000635477.1:c.3+122C=
NM_000277.1:c.842+122C=	NP_000268.1:n.842+122C=
XM_011538422.1:c.842+122C=	XP_011536724.1:n.842+122C=
NM_000277.2:c.842+122C=	NP_000268.1:n.842+122C=
NM_001354304.1:c.842+122C=	NP_001341233.1:n.842+122C=
NM_000277.3:c.842+122C= MANE Select	NP_000268.1:n.842+122C=
NM_001354304.2:c.842+122C=	NP_001341233.1:n.842+122C=