Canonical Allele Identifier: CA273107

Gene: PAH

Linked Data

• ClinVar Variation Id: 92729
• ClinVar RCV Id: RCV000078501 ; RCV000150078
• dbSNP Id: rs62516095
• ExAC: 12:103237555 G / T
• gnomAD v2: 12-103237555-G-T
• gnomAD v4: 12-102843777-G-T
• MyVariant Identifiers: chr12:g.103237555G>T (hg19) ; chr12:g.102843777G>T (hg38)
• PubMed: PMID:1349576 ; PMID:7915167 ; PMID:8831077 ; PMID:10471838 ; PMID:16256386 ; PMID:19147918 ; PMID:20140859 ; PMID:21462123 ; PMID:21811977 ; PMID:23891399
• ERepo: CA273107/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843777G>T , CM000674.2:g.102843777G>T	GRCh38
NC_000012.11:g.103237555G>T , CM000674.1:g.103237555G>T	GRCh37
NC_000012.10:g.101761685G>T	NCBI36
NG_008690.1:g.78826C>A
NG_008690.2:g.119634C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1068C>A MANE Select	ENSP00000448059.1:p.Tyr356Ter
ENST00000307000.7:c.1053C>A	ENSP00000303500.2:p.Tyr351Ter
ENST00000549247.6:n.827C>A
ENST00000551114.2:n.730C>A
ENST00000553106.5:c.1068C>A	ENSP00000448059.1:p.Tyr356Ter
ENST00000635477.1:c.172C>A
ENST00000635528.1:n.583C>A
NM_000277.1:c.1068C>A	NP_000268.1:p.Tyr356Ter
XM_011538422.1:c.1011C>A	XP_011536724.1:p.Tyr337Ter
NM_000277.2:c.1068C>A	NP_000268.1:p.Tyr356Ter
NM_001354304.1:c.1068C>A	NP_001341233.1:p.Tyr356Ter
NM_000277.3:c.1068C>A MANE Select	NP_000268.1:p.Tyr356Ter
NM_001354304.2:c.1068C>A	NP_001341233.1:p.Tyr356Ter