Canonical Allele Identifier: CA229624

Gene: PAH

Linked Data

• ClinVar Variation Id: 102736
• ClinVar RCV Id: RCV000088985 ; RCV000169529
• dbSNP Id: rs62507336
• gnomAD v2: 12-103249059-C-T
• gnomAD v3: 12-102855281-C-T
• gnomAD v4: 12-102855281-C-T
• MyVariant Identifiers: chr12:g.103249059C>T (hg19) ; chr12:g.102855281C>T (hg38)
• ERepo: CA229624/MONDO:0009861/006
• PubMed: PMID:8268925 ; PMID:9012412 ; PMID:9634518 ; PMID:12655553 ; PMID:15503242 ; PMID:17096675 ; PMID:17502162 ; PMID:17935162 ; PMID:23430918 ; PMID:23932990 ; PMID:24368688

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855281C>T , CM000674.2:g.102855281C>T	GRCh38
NC_000012.11:g.103249059C>T , CM000674.1:g.103249059C>T	GRCh37
NC_000012.10:g.101773189C>T	NCBI36
NG_008690.1:g.67322G>A
NG_008690.2:g.108130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.561G>A MANE Select	ENSP00000448059.1:p.Trp187Ter
ENST00000307000.7:c.546G>A	ENSP00000303500.2:p.Trp182Ter
ENST00000549111.5:n.657G>A
ENST00000551988.5:n.582G>A
ENST00000553106.5:c.561G>A	ENSP00000448059.1:p.Trp187Ter
NM_000277.1:c.561G>A	NP_000268.1:p.Trp187Ter
XM_011538422.1:c.561G>A	XP_011536724.1:p.Trp187Ter
NM_000277.2:c.561G>A	NP_000268.1:p.Trp187Ter
NM_001354304.1:c.561G>A	NP_001341233.1:p.Trp187Ter
XM_017019370.2:c.561G>A	XP_016874859.1:p.Trp187Ter
NM_000277.3:c.561G>A MANE Select	NP_000268.1:p.Trp187Ter
NM_001354304.2:c.561G>A	NP_001341233.1:p.Trp187Ter