Canonical Allele Identifier: CA2059441978

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840496G= , CM000674.2:g.102840496G=	GRCh38
NC_000012.11:g.103234274G= , CM000674.1:g.103234274G=	GRCh37
NC_000012.10:g.101758404G=	NCBI36
NG_008690.1:g.82107C=
NG_008690.2:g.122915C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1219C= MANE Select	ENSP00000448059.1:p.Pro407=
ENST00000307000.7:c.1204C=	ENSP00000303500.2:p.Pro402=
ENST00000551114.2:n.881C=
ENST00000553106.5:c.1219C=	ENSP00000448059.1:p.Pro407=
ENST00000635477.1:c.323C=
ENST00000635528.1:n.734C=
NM_000277.1:c.1219C=	NP_000268.1:p.Pro407=
XM_011538422.1:c.1162C=	XP_011536724.1:p.Pro388=
NM_000277.2:c.1219C=	NP_000268.1:p.Pro407=
NM_001354304.1:c.1219C=	NP_001341233.1:p.Pro407=
NM_000277.3:c.1219C= MANE Select	NP_000268.1:p.Pro407=
NM_001354304.2:c.1219C=	NP_001341233.1:p.Pro407=