Canonical Allele Identifier: CA229441

Gene: PAH

Linked Data

• ClinVar Variation Id: 102598
• ClinVar RCV Id: RCV000088838
• dbSNP Id: rs118203925
• MyVariant Identifiers: chr12:g.103306597G>T (hg19) ; chr12:g.102912819G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912819G>T , CM000674.2:g.102912819G>T	GRCh38
NC_000012.11:g.103306597G>T , CM000674.1:g.103306597G>T	GRCh37
NC_000012.10:g.101830727G>T	NCBI36
NG_008690.1:g.9784C>A
NG_008690.2:g.50592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.140C>A MANE Select	ENSP00000448059.1:p.Ala47Glu
ENST00000307000.7:c.125C>A	ENSP00000303500.2:p.Ala42Glu
ENST00000546844.1:c.140C>A	ENSP00000446658.1:p.Ala47Glu
ENST00000548677.2:n.227C>A
ENST00000548928.1:n.62C>A
ENST00000549111.5:n.236C>A
ENST00000550978.6:c.124C>A
ENST00000551337.5:c.140C>A	ENSP00000447620.1:p.Ala47Glu
ENST00000551988.5:n.229C>A
ENST00000553106.5:c.140C>A	ENSP00000448059.1:p.Ala47Glu
ENST00000635500.1:n.108C>A
NM_000277.1:c.140C>A	NP_000268.1:p.Ala47Glu
XM_011538422.1:c.140C>A	XP_011536724.1:p.Ala47Glu
NM_000277.2:c.140C>A	NP_000268.1:p.Ala47Glu
NM_001354304.1:c.140C>A	NP_001341233.1:p.Ala47Glu
XM_017019370.2:c.140C>A	XP_016874859.1:p.Ala47Glu
NM_000277.3:c.140C>A MANE Select	NP_000268.1:p.Ala47Glu
NM_001354304.2:c.140C>A	NP_001341233.1:p.Ala47Glu