Canonical Allele Identifier: CA267644

Gene: PAH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894904G>T , CM000674.2:g.102894904G>T	GRCh38
NC_000012.11:g.103288682G>T , CM000674.1:g.103288682G>T	GRCh37
NC_000012.10:g.101812812G>T	NCBI36
NG_008690.1:g.27699C>A
NG_008690.2:g.68507C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.183C>A MANE Select	ENSP00000448059.1:p.Asn61Lys
ENST00000307000.7:c.168C>A	ENSP00000303500.2:p.Asn56Lys
ENST00000546844.1:c.183C>A	ENSP00000446658.1:p.Asn61Lys
ENST00000548677.2:n.270C>A
ENST00000548928.1:n.105C>A
ENST00000549111.5:n.279C>A
ENST00000550978.6:c.167C>A
ENST00000551337.5:c.183C>A	ENSP00000447620.1:p.Asn61Lys
ENST00000551988.5:n.272C>A
ENST00000553106.5:c.183C>A	ENSP00000448059.1:p.Asn61Lys
ENST00000635500.1:n.151C>A
NM_000277.1:c.183C>A	NP_000268.1:p.Asn61Lys
XM_011538422.1:c.183C>A	XP_011536724.1:p.Asn61Lys
NM_000277.2:c.183C>A	NP_000268.1:p.Asn61Lys
NM_001354304.1:c.183C>A	NP_001341233.1:p.Asn61Lys
XM_017019370.2:c.183C>A	XP_016874859.1:p.Asn61Lys
NM_000277.3:c.183C>A MANE Select	NP_000268.1:p.Asn61Lys
NM_001354304.2:c.183C>A	NP_001341233.1:p.Asn61Lys