Canonical Allele Identifier: CA114364

Gene: PAH

Linked Data

• ClinVar Variation Id: 617
• ClinVar RCV Id: RCV000000648 ; RCV000088815 ; RCV000401074 ; RCV003415609
• dbSNP Id: rs62644499
• ExAC: 12:103234250 C / T
• gnomAD v2: 12-103234250-C-T
• gnomAD v3: 12-102840472-C-T
• gnomAD v4: 12-102840472-C-T
• COSMIC: COSM2063913
• MyVariant Identifiers: chr12:g.103234250C>T (hg19) ; chr12:g.102840472C>T (hg38)
• ERepo: CA114364/MONDO:0009861/006
• PubMed: PMID:1358789 ; PMID:7556322 ; PMID:7609462 ; PMID:8659548 ; PMID:9781015 ; PMID:17935162 ; PMID:18299955 ; PMID:23891399 ; PMID:24368688 ; PMID:26503515 ; PMID:26666653

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840472C>T , CM000674.2:g.102840472C>T	GRCh38
NC_000012.11:g.103234250C>T , CM000674.1:g.103234250C>T	GRCh37
NC_000012.10:g.101758380C>T	NCBI36
NG_008690.1:g.82131G>A
NG_008690.2:g.122939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1243G>A MANE Select	ENSP00000448059.1:p.Asp415Asn
ENST00000307000.7:c.1228G>A	ENSP00000303500.2:p.Asp410Asn
ENST00000551114.2:n.905G>A
ENST00000553106.5:c.1243G>A	ENSP00000448059.1:p.Asp415Asn
ENST00000635477.1:c.347G>A
ENST00000635528.1:n.758G>A
NM_000277.1:c.1243G>A	NP_000268.1:p.Asp415Asn
XM_011538422.1:c.1186G>A	XP_011536724.1:p.Asp396Asn
NM_000277.2:c.1243G>A	NP_000268.1:p.Asp415Asn
NM_001354304.1:c.1243G>A	NP_001341233.1:p.Asp415Asn
NM_000277.3:c.1243G>A MANE Select	NP_000268.1:p.Asp415Asn
NM_001354304.2:c.1243G>A	NP_001341233.1:p.Asp415Asn