Canonical Allele Identifier: CA229490

Gene: PAH

Linked Data

• ClinVar Variation Id: 102632
• ClinVar RCV Id: RCV000088875 ; RCV000411181
• dbSNP Id: rs62642094
• ExAC: 12:103288654 GAGA / G
• gnomAD v2: 12-103288654-GAGA-G
• gnomAD v3: 12-102894876-GAGA-G
• gnomAD v4: 12-102894876-GAGA-G
• MyVariant Identifiers: chr12:g.103288655_103288657del (hg19) ; chr12:g.102894877_102894879del (hg38)
• ERepo: CA229490/MONDO:0009861/006
• PubMed: PMID:9860305 ; PMID:15503242 ; PMID:16256386 ; PMID:23271928 ; PMID:23932990 ; PMID:24401910 ; PMID:25456745

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894879_102894881del , CM000674.2:g.102894879_102894881del	GRCh38
NC_000012.11:g.103288657_103288659del , CM000674.1:g.103288657_103288659del	GRCh37
NC_000012.10:g.101812787_101812789del	NCBI36
NG_008690.1:g.27724_27726del
NG_008690.2:g.68532_68534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.208_210del MANE Select	ENSP00000448059.1:p.Ser70del
ENST00000307000.7:c.193_195del	ENSP00000303500.2:p.Ser65del
ENST00000546844.1:c.208_210del	ENSP00000446658.1:p.Ser70del
ENST00000548677.2:n.295_297del
ENST00000548928.1:n.130_132del
ENST00000549111.5:n.304_306del
ENST00000550978.6:c.192_194del
ENST00000551337.5:c.208_210del	ENSP00000447620.1:p.Ser70del
ENST00000551988.5:n.297_299del
ENST00000553106.5:c.208_210del	ENSP00000448059.1:p.Ser70del
ENST00000635500.1:n.176_178del
NM_000277.1:c.208_210del	NP_000268.1:p.Ser70del
XM_011538422.1:c.208_210del	XP_011536724.1:p.Ser70del
NM_000277.2:c.208_210del	NP_000268.1:p.Ser70del
NM_001354304.1:c.208_210del	NP_001341233.1:p.Ser70del
XM_017019370.2:c.208_210del	XP_016874859.1:p.Ser70del
NM_000277.3:c.208_210del MANE Select	NP_000268.1:p.Ser70del
NM_001354304.2:c.208_210del	NP_001341233.1:p.Ser70del