Canonical Allele Identifier: CA2620507680

Gene: PAH

Linked Data

• gnomAD v4: 12-102843810-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843811del , CM000674.2:g.102843811del	GRCh38
NC_000012.11:g.103237589del , CM000674.1:g.103237589del	GRCh37
NC_000012.10:g.101761719del	NCBI36
NG_008690.1:g.78792del
NG_008690.2:g.119600del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1066-32del MANE Select	ENSP00000448059.1:n.1066-32del
ENST00000307000.7:c.1051-32del	ENSP00000303500.2:n.1051-32del
ENST00000549247.6:n.825-32del
ENST00000551114.2:n.728-32del
ENST00000553106.5:c.1066-32del	ENSP00000448059.1:n.1066-32del
ENST00000635477.1:c.170-32del
ENST00000635528.1:n.581-32del
NM_000277.1:c.1066-32del	NP_000268.1:n.1066-32del
XM_011538422.1:c.1009-32del	XP_011536724.1:n.1009-32del
NM_000277.2:c.1066-32del	NP_000268.1:n.1066-32del
NM_001354304.1:c.1066-32del	NP_001341233.1:n.1066-32del
NM_000277.3:c.1066-32del MANE Select	NP_000268.1:n.1066-32del
NM_001354304.2:c.1066-32del	NP_001341233.1:n.1066-32del