Canonical Allele Identifier: CA220589

Gene: PAH

Linked Data

• ClinVar Variation Id: 589
• ClinVar RCV Id: RCV000000620 ; RCV000078534 ; RCV001265833 ; RCV003914790
• dbSNP Id: rs5030851
• ExAC: 12:103246593 G / A
• gnomAD v2: 12-103246593-G-A
• gnomAD v3: 12-102852815-G-A
• gnomAD v4: 12-102852815-G-A
• MyVariant Identifiers: chr12:g.103246593G>A (hg19) ; chr12:g.102852815G>A (hg38)
• ERepo: CA220589/MONDO:0009861/006
• PubMed: PMID:1672294 ; PMID:1769645 ; PMID:2044609 ; PMID:7807961 ; PMID:8889590 ; PMID:9399896 ; PMID:9781015 ; PMID:10471838 ; PMID:11696894 ; PMID:12501224 ; PMID:12905706 ; PMID:14654665 ; PMID:15503242 ; PMID:17935162 ; PMID:18294361 ; PMID:18299955 ; PMID:19062537 ; PMID:19147918 ; PMID:19394257 ; PMID:20187763 ; PMID:20301677 ; PMID:20920871 ; PMID:22513348 ; PMID:22526846 ; PMID:22763404 ; PMID:23357515

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852815G>A , CM000674.2:g.102852815G>A	GRCh38
NC_000012.11:g.103246593G>A , CM000674.1:g.103246593G>A	GRCh37
NC_000012.10:g.101770723G>A	NCBI36
NG_008690.1:g.69788C>T
NG_008690.2:g.110596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842C>T MANE Select	ENSP00000448059.1:p.Pro281Leu
ENST00000307000.7:c.827C>T	ENSP00000303500.2:p.Pro276Leu
ENST00000549247.6:n.601C>T
ENST00000553106.5:c.842C>T	ENSP00000448059.1:p.Pro281Leu
ENST00000635477.1:c.3C>T
NM_000277.1:c.842C>T	NP_000268.1:p.Pro281Leu
XM_011538422.1:c.842C>T	XP_011536724.1:p.Pro281Leu
NM_000277.2:c.842C>T	NP_000268.1:p.Pro281Leu
NM_001354304.1:c.842C>T	NP_001341233.1:p.Pro281Leu
NM_000277.3:c.842C>T MANE Select	NP_000268.1:p.Pro281Leu
NM_001354304.2:c.842C>T	NP_001341233.1:p.Pro281Leu