Canonical Allele Identifier: CA273108

Gene: PAH

Linked Data

• ClinVar Variation Id: 92751
• ClinVar RCV Id: RCV000078536 ; RCV000150084 ; RCV000590551 ; RCV001267463
• dbSNP Id: rs5030853
• ExAC: 12:103245479 C / A
• gnomAD v2: 12-103245479-C-A
• gnomAD v3: 12-102851701-C-A
• gnomAD v4: 12-102851701-C-A
• MyVariant Identifiers: chr12:g.103245479C>A (hg19) ; chr12:g.102851701C>A (hg38)
• ERepo: CA273108/MONDO:0009861/006
• PubMed: PMID:1301187 ; PMID:1563085 ; PMID:8533759 ; PMID:8831077 ; PMID:9298832 ; PMID:9781015 ; PMID:11486900 ; PMID:12501224 ; PMID:12655553 ; PMID:15171997 ; PMID:15464430 ; PMID:15557004 ; PMID:16198137 ; PMID:17935162 ; PMID:18294361 ; PMID:18299955 ; PMID:18538294 ; PMID:19062537 ; PMID:21147011 ; PMID:22513348 ; PMID:22526846 ; PMID:23500595 ; PMID:23792259 ; PMID:24350308 ; PMID:26666653

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851701C>A , CM000674.2:g.102851701C>A	GRCh38
NC_000012.11:g.103245479C>A , CM000674.1:g.103245479C>A	GRCh37
NC_000012.10:g.101769609C>A	NCBI36
NG_008690.1:g.70902G>T
NG_008690.2:g.111710G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.898G>T MANE Select	ENSP00000448059.1:p.Ala300Ser
ENST00000307000.7:c.883G>T	ENSP00000303500.2:p.Ala295Ser
ENST00000549247.6:n.657G>T
ENST00000551114.2:n.560G>T
ENST00000553106.5:c.898G>T	ENSP00000448059.1:p.Ala300Ser
ENST00000635477.1:c.59G>T
NM_000277.1:c.898G>T	NP_000268.1:p.Ala300Ser
XM_011538422.1:c.898G>T	XP_011536724.1:p.Ala300Ser
NM_000277.2:c.898G>T	NP_000268.1:p.Ala300Ser
NM_001354304.1:c.898G>T	NP_001341233.1:p.Ala300Ser
NM_000277.3:c.898G>T MANE Select	NP_000268.1:p.Ala300Ser
NM_001354304.2:c.898G>T	NP_001341233.1:p.Ala300Ser