Canonical Allele Identifier: CA251523

Gene: PAH

Linked Data

• ClinVar Variation Id: 577
• ClinVar RCV Id: RCV000000607 ; RCV000078507 ; RCV002512607 ; RCV002287314 ; RCV003415607
• dbSNP Id: rs5030858
• ExAC: 12:103234271 G / A
• gnomAD v2: 12-103234271-G-A
• gnomAD v3: 12-102840493-G-A
• gnomAD v4: 12-102840493-G-A
• MyVariant Identifiers: chr12:g.103234271G>A (hg19) ; chr12:g.102840493G>A (hg38)
• ERepo: CA251523/MONDO:0009861/006
• PubMed: PMID:1301202 ; PMID:1355066 ; PMID:1671768 ; PMID:1671770 ; PMID:1682495 ; PMID:1971147 ; PMID:2323773 ; PMID:2884570 ; PMID:8445621 ; PMID:12655548 ; PMID:12655550 ; PMID:16879198 ; PMID:17935162 ; PMID:18538294 ; PMID:19394257 ; PMID:20301677 ; PMID:22112818 ; PMID:22526846 ; PMID:23891399 ; PMID:25596310

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840493G>A , CM000674.2:g.102840493G>A	GRCh38
NC_000012.11:g.103234271G>A , CM000674.1:g.103234271G>A	GRCh37
NC_000012.10:g.101758401G>A	NCBI36
NG_008690.1:g.82110C>T
NG_008690.2:g.122918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1222C>T MANE Select	ENSP00000448059.1:p.Arg408Trp
ENST00000307000.7:c.1207C>T	ENSP00000303500.2:p.Arg403Trp
ENST00000551114.2:n.884C>T
ENST00000553106.5:c.1222C>T	ENSP00000448059.1:p.Arg408Trp
ENST00000635477.1:c.326C>T
ENST00000635528.1:n.737C>T
NM_000277.1:c.1222C>T	NP_000268.1:p.Arg408Trp
XM_011538422.1:c.1165C>T	XP_011536724.1:p.Arg389Trp
NM_000277.2:c.1222C>T	NP_000268.1:p.Arg408Trp
NM_001354304.1:c.1222C>T	NP_001341233.1:p.Arg408Trp
NM_000277.3:c.1222C>T MANE Select	NP_000268.1:p.Arg408Trp
NM_001354304.2:c.1222C>T	NP_001341233.1:p.Arg408Trp