Canonical Allele Identifier: CA229452

Gene: PAH

Linked Data

• ClinVar Variation Id: 102604
• ClinVar RCV Id: RCV000088846 ; RCV000169163
• dbSNP Id: rs62514898
• gnomAD v4: 12-102912790-C-T
• MyVariant Identifiers: chr12:g.103306568C>T (hg19) ; chr12:g.102912790C>T (hg38)
• PubMed: PMID:8807331 ; PMID:18299955
• ERepo: CA229452/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912790C>T , CM000674.2:g.102912790C>T	GRCh38
NC_000012.11:g.103306568C>T , CM000674.1:g.103306568C>T	GRCh37
NC_000012.10:g.101830698C>T	NCBI36
NG_008690.1:g.9813G>A
NG_008690.2:g.50621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.168+1G>A MANE Select	ENSP00000448059.1:n.168+1G>A
ENST00000307000.7:c.153+1G>A	ENSP00000303500.2:n.153+1G>A
ENST00000546844.1:c.168+1G>A	ENSP00000446658.1:n.168+1G>A
ENST00000548677.2:n.255+1G>A
ENST00000548928.1:n.90+1G>A
ENST00000549111.5:n.264+1G>A
ENST00000550978.6:c.152+1G>A
ENST00000551337.5:c.168+1G>A	ENSP00000447620.1:n.168+1G>A
ENST00000551988.5:n.257+1G>A
ENST00000553106.5:c.168+1G>A	ENSP00000448059.1:n.168+1G>A
ENST00000635500.1:n.136+1G>A
NM_000277.1:c.168+1G>A	NP_000268.1:n.168+1G>A
XM_011538422.1:c.168+1G>A	XP_011536724.1:n.168+1G>A
NM_000277.2:c.168+1G>A	NP_000268.1:n.168+1G>A
NM_001354304.1:c.168+1G>A	NP_001341233.1:n.168+1G>A
XM_017019370.2:c.168+1G>A	XP_016874859.1:n.168+1G>A
NM_000277.3:c.168+1G>A MANE Select	NP_000268.1:n.168+1G>A
NM_001354304.2:c.168+1G>A	NP_001341233.1:n.168+1G>A