Canonical Allele Identifier: CA386303912

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.102917179del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917179del , CM000674.2:g.102917179del	GRCh38
NC_000012.11:g.103310957del , CM000674.1:g.103310957del	GRCh37
NC_000012.10:g.101835087del	NCBI36
NG_008690.1:g.5424del
NG_008690.2:g.46232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-49del MANE Select	ENSP00000448059.1:n.-49del
ENST00000307000.7:c.-196del	ENSP00000303500.2:n.-196del
ENST00000546708.5:n.539del
ENST00000546844.1:c.-49del	ENSP00000446658.1:n.-49del
ENST00000547319.1:n.263del
ENST00000549111.5:n.48del
ENST00000551337.5:c.-49del	ENSP00000447620.1:n.-49del
ENST00000551988.5:n.41del
ENST00000553106.5:c.-49del	ENSP00000448059.1:n.-49del
ENST00000635500.1:n.29-4281del
NM_000277.1:c.-49del	NP_000268.1:n.-49del
XM_011538422.1:c.-49del	XP_011536724.1:n.-49del
NM_000277.2:c.-49del	NP_000268.1:n.-49del
NM_001354304.1:c.-49del	NP_001341233.1:n.-49del
XM_017019370.2:c.-49del	XP_016874859.1:n.-49del
NM_000277.3:c.-49del MANE Select	NP_000268.1:n.-49del
NM_001354304.2:c.-49del	NP_001341233.1:n.-49del