Canonical Allele Identifier: CA229678

Gene: PAH

Linked Data

• ClinVar Variation Id: 133249
• ClinVar RCV Id: RCV000119778 ; RCV000169088
• dbSNP Id: rs62514936
• ExAC: 12:103248954 ATC / A
• gnomAD v2: 12-103248954-ATC-A
• gnomAD v3: 12-102855176-ATC-A
• gnomAD v4: 12-102855176-ATC-A
• MyVariant Identifiers: chr12:g.103248955_103248956del (hg19) ; chr12:g.102855177_102855178del (hg38)
• ERepo: CA229678/MONDO:0009861/006
• PubMed: PMID:8406445 ; PMID:10394930 ; PMID:17935162 ; PMID:18937047 ; PMID:23074961 ; PMID:23357515 ; PMID:24350308

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855178_102855179del , CM000674.2:g.102855178_102855179del	GRCh38
NC_000012.11:g.103248956_103248957del , CM000674.1:g.103248956_103248957del	GRCh37
NC_000012.10:g.101773086_101773087del	NCBI36
NG_008690.1:g.67425_67426del
NG_008690.2:g.108233_108234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.664_665del MANE Select	ENSP00000448059.1:p.Asp222Ter
ENST00000307000.7:c.649_650del	ENSP00000303500.2:p.Asp217Ter
ENST00000549111.5:n.760_761del
ENST00000553106.5:c.664_665del	ENSP00000448059.1:p.Asp222Ter
NM_000277.1:c.664_665del	NP_000268.1:p.Asp222Ter
XM_011538422.1:c.664_665del	XP_011536724.1:p.Asp222Ter
NM_000277.2:c.664_665del	NP_000268.1:p.Asp222Ter
NM_001354304.1:c.664_665del	NP_001341233.1:p.Asp222Ter
XM_017019370.2:c.664_665del	XP_016874859.1:p.Asp222Ter
NM_000277.3:c.664_665del MANE Select	NP_000268.1:p.Asp222Ter
NM_001354304.2:c.664_665del	NP_001341233.1:p.Asp222Ter