Canonical Allele Identifier: CA229878

Gene: PAH

Linked Data

• ClinVar Variation Id: 102914
• ClinVar RCV Id: RCV000089179 ; RCV000797251
• dbSNP Id: rs62508584
• MyVariant Identifiers: chr12:g.103240672C>T (hg19) ; chr12:g.102846894C>T (hg38)
• ERepo: CA229878/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846894C>T , CM000674.2:g.102846894C>T	GRCh38
NC_000012.11:g.103240672C>T , CM000674.1:g.103240672C>T	GRCh37
NC_000012.10:g.101764802C>T	NCBI36
NG_008690.1:g.75709G>A
NG_008690.2:g.116517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.969+1G>A MANE Select	ENSP00000448059.1:n.969+1G>A
ENST00000307000.7:c.954+1G>A	ENSP00000303500.2:n.954+1G>A
ENST00000549247.6:n.728+1G>A
ENST00000551114.2:n.631+1G>A
ENST00000553106.5:c.969+1G>A	ENSP00000448059.1:n.969+1G>A
ENST00000635477.1:c.74-2463G>A
ENST00000635528.1:n.484+1G>A
NM_000277.1:c.969+1G>A	NP_000268.1:n.969+1G>A
XM_011538422.1:c.913-2463G>A	XP_011536724.1:n.913-2463G>A
NM_000277.2:c.969+1G>A	NP_000268.1:n.969+1G>A
NM_001354304.1:c.969+1G>A	NP_001341233.1:n.969+1G>A
NM_000277.3:c.969+1G>A MANE Select	NP_000268.1:n.969+1G>A
NM_001354304.2:c.969+1G>A	NP_001341233.1:n.969+1G>A