Canonical Allele Identifier: CA386291602
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846913G>T , CM000674.2:g.102846913G>T GRCh38
NC_000012.11:g.103240691G>T , CM000674.1:g.103240691G>T GRCh37
NC_000012.10:g.101764821G>T NCBI36
NG_008690.1:g.75690C>A
NG_008690.2:g.116498C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.951C>A MANE Select ENSP00000448059.1:p.Tyr317Ter
ENST00000307000.7:c.936C>A ENSP00000303500.2:p.Tyr312Ter
ENST00000549247.6:n.710C>A
ENST00000551114.2:n.613C>A
ENST00000553106.5:c.951C>A ENSP00000448059.1:p.Tyr317Ter
ENST00000635477.1:c.74-2482C>A
ENST00000635528.1:n.466C>A
NM_000277.1:c.951C>A NP_000268.1:p.Tyr317Ter
XM_011538422.1:c.913-2482C>A XP_011536724.1:n.913-2482C>A
NM_000277.2:c.951C>A NP_000268.1:p.Tyr317Ter
NM_001354304.1:c.951C>A NP_001341233.1:p.Tyr317Ter
NM_000277.3:c.951C>A MANE Select NP_000268.1:p.Tyr317Ter
NM_001354304.2:c.951C>A NP_001341233.1:p.Tyr317Ter