Canonical Allele Identifier: CA386296617
Community Standard Title: NM_000277.3(PAH):c.658C>T (p.His220Tyr)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855184G>A , CM000674.2:g.102855184G>A GRCh38
NC_000012.11:g.103248962G>A , CM000674.1:g.103248962G>A GRCh37
NC_000012.10:g.101773092G>A NCBI36
NG_008690.1:g.67419C>T
NG_008690.2:g.108227C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.658C>T MANE Select NP_000268.1:p.His220Tyr
ENST00000553106.6:c.658C>T MANE Select ENSP00000448059.1:p.His220Tyr
NM_000277.1:c.658C>T NP_000268.1:p.His220Tyr
NM_000277.2:c.658C>T NP_000268.1:p.His220Tyr
NM_001354304.1:c.658C>T NP_001341233.1:p.His220Tyr
NM_001354304.2:c.658C>T NP_001341233.1:p.His220Tyr
ENST00000307000.7:c.643C>T ENSP00000303500.2:p.His215Tyr
ENST00000549111.5:n.754C>T
ENST00000553106.5:c.658C>T ENSP00000448059.1:p.His220Tyr
XM_011538422.1:c.658C>T XP_011536724.1:p.His220Tyr
XM_017019370.2:c.658C>T XP_016874859.1:p.His220Tyr
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