Canonical Allele Identifier: CA16020857

Gene: PAH

Linked Data

• ClinVar Variation Id: 619150
• ClinVar RCV Id: RCV000758097
• dbSNP Id: rs1565846863
• MyVariant Identifiers: chr12:g.103246647A>G (hg19) ; chr12:g.102852869A>G (hg38)
• ERepo: CA16020857/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852869A>G , CM000674.2:g.102852869A>G	GRCh38
NC_000012.11:g.103246647A>G , CM000674.1:g.103246647A>G	GRCh37
NC_000012.10:g.101770777A>G	NCBI36
NG_008690.1:g.69734T>C
NG_008690.2:g.110542T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.788T>C MANE Select	ENSP00000448059.1:p.Phe263Ser
ENST00000307000.7:c.773T>C	ENSP00000303500.2:p.Phe258Ser
ENST00000549247.6:n.547T>C
ENST00000553106.5:c.788T>C	ENSP00000448059.1:p.Phe263Ser
NM_000277.1:c.788T>C	NP_000268.1:p.Phe263Ser
XM_011538422.1:c.788T>C	XP_011536724.1:p.Phe263Ser
NM_000277.2:c.788T>C	NP_000268.1:p.Phe263Ser
NM_001354304.1:c.788T>C	NP_001341233.1:p.Phe263Ser
NM_000277.3:c.788T>C MANE Select	NP_000268.1:p.Phe263Ser
NM_001354304.2:c.788T>C	NP_001341233.1:p.Phe263Ser