Canonical Allele Identifier: CA229305

Gene: PAH

Linked Data

• ClinVar Variation Id: 102495
• ClinVar RCV Id: RCV000088726 ; RCV002498473
• dbSNP Id: rs62508628
• MyVariant Identifiers: chr12:g.103238130G>T (hg19) ; chr12:g.102844352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844352G>T , CM000674.2:g.102844352G>T	GRCh38
NC_000012.11:g.103238130G>T , CM000674.1:g.103238130G>T	GRCh37
NC_000012.10:g.101762260G>T	NCBI36
NG_008690.1:g.78251C>A
NG_008690.2:g.119059C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1049C>A MANE Select	ENSP00000448059.1:p.Ser350Tyr
ENST00000307000.7:c.1034C>A	ENSP00000303500.2:p.Ser345Tyr
ENST00000549247.6:n.808C>A
ENST00000551114.2:n.711C>A
ENST00000553106.5:c.1049C>A	ENSP00000448059.1:p.Ser350Tyr
ENST00000635477.1:c.153C>A
ENST00000635528.1:n.564C>A
NM_000277.1:c.1049C>A	NP_000268.1:p.Ser350Tyr
XM_011538422.1:c.992C>A	XP_011536724.1:p.Ser331Tyr
NM_000277.2:c.1049C>A	NP_000268.1:p.Ser350Tyr
NM_001354304.1:c.1049C>A	NP_001341233.1:p.Ser350Tyr
NM_000277.3:c.1049C>A MANE Select	NP_000268.1:p.Ser350Tyr
NM_001354304.2:c.1049C>A	NP_001341233.1:p.Ser350Tyr