Canonical Allele Identifier: CA229414

Gene: PAH

Linked Data

• ClinVar Variation Id: 592
• ClinVar RCV Id: RCV000000623 ; RCV000088813
• dbSNP Id: rs79931499
• ExAC: 12:103234255 C / G
• gnomAD v2: 12-103234255-C-G
• gnomAD v4: 12-102840477-C-G
• MyVariant Identifiers: chr12:g.103234255C>G (hg19) ; chr12:g.102840477C>G (hg38)
• ERepo: CA229414/MONDO:0009861/006
• PubMed: PMID:1998345 ; PMID:15319459 ; PMID:21307867 ; PMID:26322415

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840477C>G , CM000674.2:g.102840477C>G	GRCh38
NC_000012.11:g.103234255C>G , CM000674.1:g.103234255C>G	GRCh37
NC_000012.10:g.101758385C>G	NCBI36
NG_008690.1:g.82126G>C
NG_008690.2:g.122934G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1238G>C MANE Select	ENSP00000448059.1:p.Arg413Pro
ENST00000307000.7:c.1223G>C	ENSP00000303500.2:p.Arg408Pro
ENST00000551114.2:n.900G>C
ENST00000553106.5:c.1238G>C	ENSP00000448059.1:p.Arg413Pro
ENST00000635477.1:c.342G>C
ENST00000635528.1:n.753G>C
NM_000277.1:c.1238G>C	NP_000268.1:p.Arg413Pro
XM_011538422.1:c.1181G>C	XP_011536724.1:p.Arg394Pro
NM_000277.2:c.1238G>C	NP_000268.1:p.Arg413Pro
NM_001354304.1:c.1238G>C	NP_001341233.1:p.Arg413Pro
NM_000277.3:c.1238G>C MANE Select	NP_000268.1:p.Arg413Pro
NM_001354304.2:c.1238G>C	NP_001341233.1:p.Arg413Pro