Canonical Allele Identifier: CA267671

Gene: PAH

Linked Data

• ClinVar Variation Id: 120285
• ClinVar RCV Id: RCV000106366
• dbSNP Id: rs281865445
• gnomAD v4: 12-102852872-A-C
• MyVariant Identifiers: chr12:g.103246650A>C (hg19) ; chr12:g.102852872A>C (hg38)
• ERepo: CA267671/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852872A>C , CM000674.2:g.102852872A>C	GRCh38
NC_000012.11:g.103246650A>C , CM000674.1:g.103246650A>C	GRCh37
NC_000012.10:g.101770780A>C	NCBI36
NG_008690.1:g.69731T>G
NG_008690.2:g.110539T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.785T>G MANE Select	ENSP00000448059.1:p.Val262Gly
ENST00000307000.7:c.770T>G	ENSP00000303500.2:p.Val257Gly
ENST00000549247.6:n.544T>G
ENST00000553106.5:c.785T>G	ENSP00000448059.1:p.Val262Gly
NM_000277.1:c.785T>G	NP_000268.1:p.Val262Gly
XM_011538422.1:c.785T>G	XP_011536724.1:p.Val262Gly
NM_000277.2:c.785T>G	NP_000268.1:p.Val262Gly
NM_001354304.1:c.785T>G	NP_001341233.1:p.Val262Gly
NM_000277.3:c.785T>G MANE Select	NP_000268.1:p.Val262Gly
NM_001354304.2:c.785T>G	NP_001341233.1:p.Val262Gly