Canonical Allele Identifier: CA229358

Gene: PAH

Linked Data

• ClinVar Variation Id: 102535
• ClinVar RCV Id: RCV000088768 ; RCV001200006
• dbSNP Id: rs62642911
• MyVariant Identifiers: chr12:g.103237491T>A (hg19) ; chr12:g.102843713T>A (hg38)
• ERepo: CA229358/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843713T>A , CM000674.2:g.102843713T>A	GRCh38
NC_000012.11:g.103237491T>A , CM000674.1:g.103237491T>A	GRCh37
NC_000012.10:g.101761621T>A	NCBI36
NG_008690.1:g.78890A>T
NG_008690.2:g.119698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1132A>T MANE Select	ENSP00000448059.1:p.Thr378Ser
ENST00000307000.7:c.1117A>T	ENSP00000303500.2:p.Thr373Ser
ENST00000549247.6:n.891A>T
ENST00000551114.2:n.794A>T
ENST00000553106.5:c.1132A>T	ENSP00000448059.1:p.Thr378Ser
ENST00000635477.1:c.236A>T
ENST00000635528.1:n.647A>T
NM_000277.1:c.1132A>T	NP_000268.1:p.Thr378Ser
XM_011538422.1:c.1075A>T	XP_011536724.1:p.Thr359Ser
NM_000277.2:c.1132A>T	NP_000268.1:p.Thr378Ser
NM_001354304.1:c.1132A>T	NP_001341233.1:p.Thr378Ser
NM_000277.3:c.1132A>T MANE Select	NP_000268.1:p.Thr378Ser
NM_001354304.2:c.1132A>T	NP_001341233.1:p.Thr378Ser