Canonical Allele Identifier: CA481375630

Gene: PAH

Linked Data

• ClinVar Variation Id: 1536686
• ClinVar RCV Id: RCV002166768
• dbSNP Id: rs2136635574
• MyVariant Identifiers: chr12:g.103237465A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843687A>G , CM000674.2:g.102843687A>G	GRCh38
NC_000012.11:g.103237465A>G , CM000674.1:g.103237465A>G	GRCh37
NC_000012.10:g.101761595A>G	NCBI36
NG_008690.1:g.78916T>C
NG_008690.2:g.119724T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1158T>C MANE Select	ENSP00000448059.1:p.Tyr386=
ENST00000307000.7:c.1143T>C	ENSP00000303500.2:p.Tyr381=
ENST00000549247.6:n.917T>C
ENST00000551114.2:n.820T>C
ENST00000553106.5:c.1158T>C	ENSP00000448059.1:p.Tyr386=
ENST00000635477.1:c.262T>C
ENST00000635528.1:n.673T>C
NM_000277.1:c.1158T>C	NP_000268.1:p.Tyr386=
XM_011538422.1:c.1101T>C	XP_011536724.1:p.Tyr367=
NM_000277.2:c.1158T>C	NP_000268.1:p.Tyr386=
NM_001354304.1:c.1158T>C	NP_001341233.1:p.Tyr386=
NM_000277.3:c.1158T>C MANE Select	NP_000268.1:p.Tyr386=
NM_001354304.2:c.1158T>C	NP_001341233.1:p.Tyr386=