Canonical Allele Identifier: CA682819159
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1182595676
gnomAD v3: 12-102917237-AAGAG-A
gnomAD v4: 12-102917237-AAGAG-A
MyVariant Identifiers: chr12:g.103311016_103311019del (hg19) chr12:g.102917238_102917241del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917240_102917243del , CM000674.2:g.102917240_102917243del GRCh38
NC_000012.11:g.103311018_103311021del , CM000674.1:g.103311018_103311021del GRCh37
NC_000012.10:g.101835148_101835151del NCBI36
NG_008690.1:g.5362_5365del
NG_008690.2:g.46170_46173del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-111_-108del MANE Select ENSP00000448059.1:n.-111_-108del
ENST00000307000.7:c.-258_-255del ENSP00000303500.2:n.-258_-255del
ENST00000546708.5:n.493-16_493-13del
ENST00000546844.1:c.-95-16_-95-13del ENSP00000446658.1:n.-95-16_-95-13del
ENST00000547319.1:n.217-16_217-13del
ENST00000551337.5:c.-95-16_-95-13del ENSP00000447620.1:n.-95-16_-95-13del
ENST00000553106.5:c.-111_-108del ENSP00000448059.1:n.-111_-108del
ENST00000635500.1:n.29-4343_29-4340del
NM_000277.1:c.-111_-108del NP_000268.1:n.-111_-108del
XM_011538422.1:c.-111_-108del XP_011536724.1:n.-111_-108del
NM_000277.2:c.-111_-108del NP_000268.1:n.-111_-108del
NM_001354304.1:c.-95-16_-95-13del NP_001341233.1:n.-95-16_-95-13del
XM_017019370.2:c.-111_-108del XP_016874859.1:n.-111_-108del
NM_000277.3:c.-111_-108del MANE Select NP_000268.1:n.-111_-108del
NM_001354304.2:c.-95-16_-95-13del NP_001341233.1:n.-95-16_-95-13del
Search 100 bp 5'
Search 100 bp 3'