Canonical Allele Identifier: CA229322

Gene: PAH

Linked Data

• ClinVar Variation Id: 102509
• ClinVar RCV Id: RCV000088740 ; RCV001199985
• dbSNP Id: rs62508684
• MyVariant Identifiers: chr12:g.103237558C>T (hg19) ; chr12:g.102843780C>T (hg38)
• ERepo: CA229322/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843780C>T , CM000674.2:g.102843780C>T	GRCh38
NC_000012.11:g.103237558C>T , CM000674.1:g.103237558C>T	GRCh37
NC_000012.10:g.101761688C>T	NCBI36
NG_008690.1:g.78823G>A
NG_008690.2:g.119631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1066-1G>A MANE Select	ENSP00000448059.1:n.1066-1G>A
ENST00000307000.7:c.1051-1G>A	ENSP00000303500.2:n.1051-1G>A
ENST00000549247.6:n.825-1G>A
ENST00000551114.2:n.728-1G>A
ENST00000553106.5:c.1066-1G>A	ENSP00000448059.1:n.1066-1G>A
ENST00000635477.1:c.170-1G>A
ENST00000635528.1:n.581-1G>A
NM_000277.1:c.1066-1G>A	NP_000268.1:n.1066-1G>A
XM_011538422.1:c.1009-1G>A	XP_011536724.1:n.1009-1G>A
NM_000277.2:c.1066-1G>A	NP_000268.1:n.1066-1G>A
NM_001354304.1:c.1066-1G>A	NP_001341233.1:n.1066-1G>A
NM_000277.3:c.1066-1G>A MANE Select	NP_000268.1:n.1066-1G>A
NM_001354304.2:c.1066-1G>A	NP_001341233.1:n.1066-1G>A