Canonical Allele Identifier: CA2059456734
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875944770
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866090_102866091insTAAA , CM000674.2:g.102866090_102866091insTAAA GRCh38
NC_000012.11:g.103259868_103259869insTAAA , CM000674.1:g.103259868_103259869insTAAA GRCh37
NC_000012.10:g.101783998_101783999insTAAA NCBI36
NG_008690.1:g.56515_56516insATTT
NG_008690.2:g.97323_97324insATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+508_509+509insATTT MANE Select ENSP00000448059.1:n.509+508_509+509insATTT
ENST00000307000.7:c.494+508_494+509insATTT ENSP00000303500.2:n.494+508_494+509insATTT
ENST00000549111.5:n.605+508_605+509insATTT
ENST00000551988.5:n.531-10756_531-10755insATTT
ENST00000553106.5:c.509+508_509+509insATTT ENSP00000448059.1:n.509+508_509+509insATTT
NM_000277.1:c.509+508_509+509insATTT NP_000268.1:n.509+508_509+509insATTT
XM_011538422.1:c.509+508_509+509insATTT XP_011536724.1:n.509+508_509+509insATTT
NM_000277.2:c.509+508_509+509insATTT NP_000268.1:n.509+508_509+509insATTT
NM_001354304.1:c.509+508_509+509insATTT NP_001341233.1:n.509+508_509+509insATTT
XM_017019370.2:c.509+508_509+509insATTT XP_016874859.1:n.509+508_509+509insATTT
NM_000277.3:c.509+508_509+509insATTT MANE Select NP_000268.1:n.509+508_509+509insATTT
NM_001354304.2:c.509+508_509+509insATTT NP_001341233.1:n.509+508_509+509insATTT
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