Canonical Allele Identifier: CA229867

Gene: PAH

Linked Data

• ClinVar Variation Id: 102907
• ClinVar RCV Id: RCV000089171 ; RCV000409567
• dbSNP Id: rs62642940
• gnomAD v3: 12-102846923-G-T
• gnomAD v4: 12-102846923-G-T
• MyVariant Identifiers: chr12:g.103240701G>T (hg19) ; chr12:g.102846923G>T (hg38)
• ERepo: CA229867/MONDO:0009861/006
• PubMed: PMID:8807319 ; PMID:9634518 ; PMID:18590700 ; PMID:23842451 ; PMID:24941924

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846923G>T , CM000674.2:g.102846923G>T	GRCh38
NC_000012.11:g.103240701G>T , CM000674.1:g.103240701G>T	GRCh37
NC_000012.10:g.101764831G>T	NCBI36
NG_008690.1:g.75680C>A
NG_008690.2:g.116488C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.941C>A MANE Select	ENSP00000448059.1:p.Pro314His
ENST00000307000.7:c.926C>A	ENSP00000303500.2:p.Pro309His
ENST00000549247.6:n.700C>A
ENST00000551114.2:n.603C>A
ENST00000553106.5:c.941C>A	ENSP00000448059.1:p.Pro314His
ENST00000635477.1:c.74-2492C>A
ENST00000635528.1:n.456C>A
NM_000277.1:c.941C>A	NP_000268.1:p.Pro314His
XM_011538422.1:c.913-2492C>A	XP_011536724.1:n.913-2492C>A
NM_000277.2:c.941C>A	NP_000268.1:p.Pro314His
NM_001354304.1:c.941C>A	NP_001341233.1:p.Pro314His
NM_000277.3:c.941C>A MANE Select	NP_000268.1:p.Pro314His
NM_001354304.2:c.941C>A	NP_001341233.1:p.Pro314His