Canonical Allele Identifier: CA251534

Gene: PAH

Linked Data

• ClinVar Variation Id: 603
• ClinVar RCV Id: RCV000000634 ; RCV000078531
• dbSNP Id: rs78655458
• ExAC: 12:103246606 A / C
• gnomAD v2: 12-103246606-A-C
• gnomAD v3: 12-102852828-A-C
• gnomAD v4: 12-102852828-A-C
• MyVariant Identifiers: chr12:g.103246606A>C (hg19) ; chr12:g.102852828A>C (hg38)
• PubMed: PMID:2035532 ; PMID:12655546 ; PMID:21953985 ; PMID:23500595 ; PMID:23891399 ; PMID:25882749
• ERepo: CA251534/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852828A>C , CM000674.2:g.102852828A>C	GRCh38
NC_000012.11:g.103246606A>C , CM000674.1:g.103246606A>C	GRCh37
NC_000012.10:g.101770736A>C	NCBI36
NG_008690.1:g.69775T>G
NG_008690.2:g.110583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.829T>G MANE Select	ENSP00000448059.1:p.Tyr277Asp
ENST00000307000.7:c.814T>G	ENSP00000303500.2:p.Tyr272Asp
ENST00000549247.6:n.588T>G
ENST00000553106.5:c.829T>G	ENSP00000448059.1:p.Tyr277Asp
NM_000277.1:c.829T>G	NP_000268.1:p.Tyr277Asp
XM_011538422.1:c.829T>G	XP_011536724.1:p.Tyr277Asp
NM_000277.2:c.829T>G	NP_000268.1:p.Tyr277Asp
NM_001354304.1:c.829T>G	NP_001341233.1:p.Tyr277Asp
NM_000277.3:c.829T>G MANE Select	NP_000268.1:p.Tyr277Asp
NM_001354304.2:c.829T>G	NP_001341233.1:p.Tyr277Asp