Canonical Allele Identifier: CA229781

Gene: PAH

Linked Data

• ClinVar Variation Id: 102846
• ClinVar RCV Id: RCV000089105 ; RCV000153632
• dbSNP Id: rs62514950
• ExAC: 12:103246626 C / T
• gnomAD v2: 12-103246626-C-T
• gnomAD v4: 12-102852848-C-T
• MyVariant Identifiers: chr12:g.103246626C>T (hg19) ; chr12:g.102852848C>T (hg38)
• PubMed: PMID:21871829 ; PMID:23891399 ; PMID:26503515 ; PMID:26666653
• ERepo: CA229781/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852848C>T , CM000674.2:g.102852848C>T	GRCh38
NC_000012.11:g.103246626C>T , CM000674.1:g.103246626C>T	GRCh37
NC_000012.10:g.101770756C>T	NCBI36
NG_008690.1:g.69755G>A
NG_008690.2:g.110563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.809G>A MANE Select	ENSP00000448059.1:p.Arg270Lys
ENST00000307000.7:c.794G>A	ENSP00000303500.2:p.Arg265Lys
ENST00000549247.6:n.568G>A
ENST00000553106.5:c.809G>A	ENSP00000448059.1:p.Arg270Lys
NM_000277.1:c.809G>A	NP_000268.1:p.Arg270Lys
XM_011538422.1:c.809G>A	XP_011536724.1:p.Arg270Lys
NM_000277.2:c.809G>A	NP_000268.1:p.Arg270Lys
NM_001354304.1:c.809G>A	NP_001341233.1:p.Arg270Lys
NM_000277.3:c.809G>A MANE Select	NP_000268.1:p.Arg270Lys
NM_001354304.2:c.809G>A	NP_001341233.1:p.Arg270Lys