Canonical Allele Identifier: CA229332

Gene: PAH

Linked Data

• ClinVar Variation Id: 102515
• ClinVar RCV Id: RCV000088748 ; RCV002514542
• dbSNP Id: rs62507329
• MyVariant Identifiers: chr12:g.103237539G>T (hg19) ; chr12:g.102843761G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843761G>T , CM000674.2:g.102843761G>T	GRCh38
NC_000012.11:g.103237539G>T , CM000674.1:g.103237539G>T	GRCh37
NC_000012.10:g.101761669G>T	NCBI36
NG_008690.1:g.78842C>A
NG_008690.2:g.119650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1084C>A MANE Select	ENSP00000448059.1:p.Pro362Thr
ENST00000307000.7:c.1069C>A	ENSP00000303500.2:p.Pro357Thr
ENST00000549247.6:n.843C>A
ENST00000551114.2:n.746C>A
ENST00000553106.5:c.1084C>A	ENSP00000448059.1:p.Pro362Thr
ENST00000635477.1:c.188C>A
ENST00000635528.1:n.599C>A
NM_000277.1:c.1084C>A	NP_000268.1:p.Pro362Thr
XM_011538422.1:c.1027C>A	XP_011536724.1:p.Pro343Thr
NM_000277.2:c.1084C>A	NP_000268.1:p.Pro362Thr
NM_001354304.1:c.1084C>A	NP_001341233.1:p.Pro362Thr
NM_000277.3:c.1084C>A MANE Select	NP_000268.1:p.Pro362Thr
NM_001354304.2:c.1084C>A	NP_001341233.1:p.Pro362Thr