Canonical Allele Identifier: CA229812

Gene: PAH

Linked Data

• ClinVar Variation Id: 102869
• ClinVar RCV Id: RCV000089130 ; RCV000993619
• dbSNP Id: rs5030852
• MyVariant Identifiers: chr12:g.103246592C>A (hg19) ; chr12:g.102852814C>A (hg38)
• ERepo: CA229812/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852814C>A , CM000674.2:g.102852814C>A	GRCh38
NC_000012.11:g.103246592C>A , CM000674.1:g.103246592C>A	GRCh37
NC_000012.10:g.101770722C>A	NCBI36
NG_008690.1:g.69789G>T
NG_008690.2:g.110597G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+1G>T MANE Select	ENSP00000448059.1:n.842+1G>T
ENST00000307000.7:c.827+1G>T	ENSP00000303500.2:n.827+1G>T
ENST00000549247.6:n.601+1G>T
ENST00000553106.5:c.842+1G>T	ENSP00000448059.1:n.842+1G>T
ENST00000635477.1:c.3+1G>T
NM_000277.1:c.842+1G>T	NP_000268.1:n.842+1G>T
XM_011538422.1:c.842+1G>T	XP_011536724.1:n.842+1G>T
NM_000277.2:c.842+1G>T	NP_000268.1:n.842+1G>T
NM_001354304.1:c.842+1G>T	NP_001341233.1:n.842+1G>T
NM_000277.3:c.842+1G>T MANE Select	NP_000268.1:n.842+1G>T
NM_001354304.2:c.842+1G>T	NP_001341233.1:n.842+1G>T