Canonical Allele Identifier: CA229369

Gene: PAH

Linked Data

• ClinVar Variation Id: 102544
• ClinVar RCV Id: RCV000088778 ; RCV001269040
• dbSNP Id: rs199475695
• MyVariant Identifiers: chr12:g.103237448A>G (hg19) ; chr12:g.102843670A>G (hg38)
• ERepo: CA229369/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843670A>G , CM000674.2:g.102843670A>G	GRCh38
NC_000012.11:g.103237448A>G , CM000674.1:g.103237448A>G	GRCh37
NC_000012.10:g.101761578A>G	NCBI36
NG_008690.1:g.78933T>C
NG_008690.2:g.119741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1175T>C MANE Select	ENSP00000448059.1:p.Phe392Ser
ENST00000307000.7:c.1160T>C	ENSP00000303500.2:p.Phe387Ser
ENST00000549247.6:n.934T>C
ENST00000551114.2:n.837T>C
ENST00000553106.5:c.1175T>C	ENSP00000448059.1:p.Phe392Ser
ENST00000635477.1:c.279T>C
ENST00000635528.1:n.690T>C
NM_000277.1:c.1175T>C	NP_000268.1:p.Phe392Ser
XM_011538422.1:c.1118T>C	XP_011536724.1:p.Phe373Ser
NM_000277.2:c.1175T>C	NP_000268.1:p.Phe392Ser
NM_001354304.1:c.1175T>C	NP_001341233.1:p.Phe392Ser
NM_000277.3:c.1175T>C MANE Select	NP_000268.1:p.Phe392Ser
NM_001354304.2:c.1175T>C	NP_001341233.1:p.Phe392Ser