Canonical Allele Identifier: CA273109

Gene: PAH

Linked Data

• ClinVar Variation Id: 92747
• ClinVar RCV Id: RCV000078527 ; RCV000150086
• dbSNP Id: rs62516109
• gnomAD v4: 12-102855204-A-G
• MyVariant Identifiers: chr12:g.103248982A>G (hg19) ; chr12:g.102855204A>G (hg38)
• PubMed: PMID:8632937 ; PMID:8659548 ; PMID:9012412 ; PMID:9521426 ; PMID:16176881 ; PMID:17924342 ; PMID:19292873 ; PMID:22112818 ; PMID:23430547 ; PMID:23430918 ; PMID:23764561
• ERepo: CA273109/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855204A>G , CM000674.2:g.102855204A>G	GRCh38
NC_000012.11:g.103248982A>G , CM000674.1:g.103248982A>G	GRCh37
NC_000012.10:g.101773112A>G	NCBI36
NG_008690.1:g.67399T>C
NG_008690.2:g.108207T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.638T>C MANE Select	ENSP00000448059.1:p.Leu213Pro
ENST00000307000.7:c.623T>C	ENSP00000303500.2:p.Leu208Pro
ENST00000549111.5:n.734T>C
ENST00000553106.5:c.638T>C	ENSP00000448059.1:p.Leu213Pro
NM_000277.1:c.638T>C	NP_000268.1:p.Leu213Pro
XM_011538422.1:c.638T>C	XP_011536724.1:p.Leu213Pro
NM_000277.2:c.638T>C	NP_000268.1:p.Leu213Pro
NM_001354304.1:c.638T>C	NP_001341233.1:p.Leu213Pro
XM_017019370.2:c.638T>C	XP_016874859.1:p.Leu213Pro
NM_000277.3:c.638T>C MANE Select	NP_000268.1:p.Leu213Pro
NM_001354304.2:c.638T>C	NP_001341233.1:p.Leu213Pro