Canonical Allele Identifier: CA386302275

Gene: PAH

Linked Data

• ClinVar Variation Id: 1455173
• ClinVar RCV Id: RCV001939690
• dbSNP Id: rs1025860114
• MyVariant Identifiers: chr12:g.103306567A>T (hg19) ; chr12:g.102912789A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912789A>T , CM000674.2:g.102912789A>T	GRCh38
NC_000012.11:g.103306567A>T , CM000674.1:g.103306567A>T	GRCh37
NC_000012.10:g.101830697A>T	NCBI36
NG_008690.1:g.9814T>A
NG_008690.2:g.50622T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.168+2T>A MANE Select	ENSP00000448059.1:n.168+2T>A
ENST00000307000.7:c.153+2T>A	ENSP00000303500.2:n.153+2T>A
ENST00000546844.1:c.168+2T>A	ENSP00000446658.1:n.168+2T>A
ENST00000548677.2:n.255+2T>A
ENST00000548928.1:n.90+2T>A
ENST00000549111.5:n.264+2T>A
ENST00000550978.6:c.152+2T>A
ENST00000551337.5:c.168+2T>A	ENSP00000447620.1:n.168+2T>A
ENST00000551988.5:n.257+2T>A
ENST00000553106.5:c.168+2T>A	ENSP00000448059.1:n.168+2T>A
ENST00000635500.1:n.136+2T>A
NM_000277.1:c.168+2T>A	NP_000268.1:n.168+2T>A
XM_011538422.1:c.168+2T>A	XP_011536724.1:n.168+2T>A
NM_000277.2:c.168+2T>A	NP_000268.1:n.168+2T>A
NM_001354304.1:c.168+2T>A	NP_001341233.1:n.168+2T>A
XM_017019370.2:c.168+2T>A	XP_016874859.1:n.168+2T>A
NM_000277.3:c.168+2T>A MANE Select	NP_000268.1:n.168+2T>A
NM_001354304.2:c.168+2T>A	NP_001341233.1:n.168+2T>A