Canonical Allele Identifier: CA2797242245

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102895005G>C , CM000674.2:g.102895005G>C	GRCh38
NC_000012.11:g.103288783G>C , CM000674.1:g.103288783G>C	GRCh37
NC_000012.10:g.101812913G>C	NCBI36
NG_008690.1:g.27598C>G
NG_008690.2:g.68406C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.169-87C>G MANE Select	ENSP00000448059.1:n.169-87C>G
ENST00000307000.7:c.154-87C>G	ENSP00000303500.2:n.154-87C>G
ENST00000546844.1:c.169-87C>G	ENSP00000446658.1:n.169-87C>G
ENST00000548677.2:n.256-87C>G
ENST00000548928.1:n.91-87C>G
ENST00000549111.5:n.265-87C>G
ENST00000550978.6:c.153-87C>G
ENST00000551337.5:c.169-87C>G	ENSP00000447620.1:n.169-87C>G
ENST00000551988.5:n.258-87C>G
ENST00000553106.5:c.169-87C>G	ENSP00000448059.1:n.169-87C>G
ENST00000635500.1:n.137-87C>G
NM_000277.1:c.169-87C>G	NP_000268.1:n.169-87C>G
XM_011538422.1:c.169-87C>G	XP_011536724.1:n.169-87C>G
NM_000277.2:c.169-87C>G	NP_000268.1:n.169-87C>G
NM_001354304.1:c.169-87C>G	NP_001341233.1:n.169-87C>G
XM_017019370.2:c.169-87C>G	XP_016874859.1:n.169-87C>G
NM_000277.3:c.169-87C>G MANE Select	NP_000268.1:n.169-87C>G
NM_001354304.2:c.169-87C>G	NP_001341233.1:n.169-87C>G