Canonical Allele Identifier: CA229315

Gene: PAH

Linked Data

• ClinVar Variation Id: 102501
• ClinVar RCV Id: RCV000088732 ; RCV000411856
• dbSNP Id: rs62516147
• gnomAD v2: 12-103238113-C-T
• gnomAD v4: 12-102844335-C-T
• MyVariant Identifiers: chr12:g.103238113C>T (hg19) ; chr12:g.102844335C>T (hg38)
• ERepo: CA229315/MONDO:0009861/006
• PubMed: PMID:10679941 ; PMID:25525159 ; PMID:26666653

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844335C>T , CM000674.2:g.102844335C>T	GRCh38
NC_000012.11:g.103238113C>T , CM000674.1:g.103238113C>T	GRCh37
NC_000012.10:g.101762243C>T	NCBI36
NG_008690.1:g.78268G>A
NG_008690.2:g.119076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1065+1G>A MANE Select	ENSP00000448059.1:n.1065+1G>A
ENST00000307000.7:c.1050+1G>A	ENSP00000303500.2:n.1050+1G>A
ENST00000549247.6:n.824+1G>A
ENST00000551114.2:n.727+1G>A
ENST00000553106.5:c.1065+1G>A	ENSP00000448059.1:n.1065+1G>A
ENST00000635477.1:c.169+1G>A
ENST00000635528.1:n.580+1G>A
NM_000277.1:c.1065+1G>A	NP_000268.1:n.1065+1G>A
XM_011538422.1:c.1008+1G>A	XP_011536724.1:n.1008+1G>A
NM_000277.2:c.1065+1G>A	NP_000268.1:n.1065+1G>A
NM_001354304.1:c.1065+1G>A	NP_001341233.1:n.1065+1G>A
NM_000277.3:c.1065+1G>A MANE Select	NP_000268.1:n.1065+1G>A
NM_001354304.2:c.1065+1G>A	NP_001341233.1:n.1065+1G>A