Canonical Allele Identifier: CA229609

Gene: PAH

Linked Data

• ClinVar Variation Id: 102726
• ClinVar RCV Id: RCV000088975 ; RCV000534379 ; RCV000589313 ; RCV003905086
• dbSNP Id: rs199475602
• ExAC: 12:103249091 C / T
• gnomAD v2: 12-103249091-C-T
• gnomAD v3: 12-102855313-C-T
• gnomAD v4: 12-102855313-C-T
• MyVariant Identifiers: chr12:g.103249091C>T (hg19) ; chr12:g.102855313C>T (hg38)
• PubMed: PMID:12501224 ; PMID:17096675 ; PMID:23430547 ; PMID:23500595 ; PMID:23764561
• ERepo: CA229609/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855313C>T , CM000674.2:g.102855313C>T	GRCh38
NC_000012.11:g.103249091C>T , CM000674.1:g.103249091C>T	GRCh37
NC_000012.10:g.101773221C>T	NCBI36
NG_008690.1:g.67290G>A
NG_008690.2:g.108098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.529G>A MANE Select	ENSP00000448059.1:p.Val177Met
ENST00000307000.7:c.514G>A	ENSP00000303500.2:p.Val172Met
ENST00000549111.5:n.625G>A
ENST00000551988.5:n.550G>A
ENST00000553106.5:c.529G>A	ENSP00000448059.1:p.Val177Met
NM_000277.1:c.529G>A	NP_000268.1:p.Val177Met
XM_011538422.1:c.529G>A	XP_011536724.1:p.Val177Met
NM_000277.2:c.529G>A	NP_000268.1:p.Val177Met
NM_001354304.1:c.529G>A	NP_001341233.1:p.Val177Met
XM_017019370.2:c.529G>A	XP_016874859.1:p.Val177Met
NM_000277.3:c.529G>A MANE Select	NP_000268.1:p.Val177Met
NM_001354304.2:c.529G>A	NP_001341233.1:p.Val177Met