Canonical Allele Identifier: CA114369

Gene: PAH

Linked Data

• ClinVar Variation Id: 628
• ClinVar RCV Id: RCV000000660 ; RCV000078502 ; RCV000150077 ; RCV000850463 ; RCV001280537 ; RCV003390629 ; RCV003258654
• dbSNP Id: rs62642937
• ExAC: 12:103237484 G / A
• gnomAD v2: 12-103237484-G-A
• gnomAD v3: 12-102843706-G-A
• gnomAD v4: 12-102843706-G-A
• MyVariant Identifiers: chr12:g.103237484G>A (hg19) ; chr12:g.102843706G>A (hg38)
• ERepo: CA114369/MONDO:0009861/006
• PubMed: PMID:7981714 ; PMID:8268925 ; PMID:8533759 ; PMID:8981952 ; PMID:9012412 ; PMID:9298832 ; PMID:9350299 ; PMID:9399896 ; PMID:9429153 ; PMID:9634518 ; PMID:10234516 ; PMID:10693064 ; PMID:11385716 ; PMID:12655553 ; PMID:14722928 ; PMID:16198137 ; PMID:17924342 ; PMID:17935162 ; PMID:18294361 ; PMID:18299955 ; PMID:21147011 ; PMID:21307867 ; PMID:22698810 ; PMID:23357515 ; PMID:23500595 ; PMID:23932990 ; PMID:24350308 ; PMID:24368688 ; PMID:25087612 ; PMID:25333069 ; PMID:26600521 ; PMID:27121329 ; PMID:27620137

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843706G>A , CM000674.2:g.102843706G>A	GRCh38
NC_000012.11:g.103237484G>A , CM000674.1:g.103237484G>A	GRCh37
NC_000012.10:g.101761614G>A	NCBI36
NG_008690.1:g.78897C>T
NG_008690.2:g.119705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1139C>T MANE Select	ENSP00000448059.1:p.Thr380Met
ENST00000307000.7:c.1124C>T	ENSP00000303500.2:p.Thr375Met
ENST00000549247.6:n.898C>T
ENST00000551114.2:n.801C>T
ENST00000553106.5:c.1139C>T	ENSP00000448059.1:p.Thr380Met
ENST00000635477.1:c.243C>T
ENST00000635528.1:n.654C>T
NM_000277.1:c.1139C>T	NP_000268.1:p.Thr380Met
XM_011538422.1:c.1082C>T	XP_011536724.1:p.Thr361Met
NM_000277.2:c.1139C>T	NP_000268.1:p.Thr380Met
NM_001354304.1:c.1139C>T	NP_001341233.1:p.Thr380Met
NM_000277.3:c.1139C>T MANE Select	NP_000268.1:p.Thr380Met
NM_001354304.2:c.1139C>T	NP_001341233.1:p.Thr380Met