Canonical Allele Identifier: CA386303905
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917127A>C , CM000674.2:g.102917127A>C GRCh38
NC_000012.11:g.103310905A>C , CM000674.1:g.103310905A>C GRCh37
NC_000012.10:g.101835035A>C NCBI36
NG_008690.1:g.5476T>G
NG_008690.2:g.46284T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.4T>G MANE Select ENSP00000448059.1:p.Ser2Ala
ENST00000307000.7:c.-144T>G ENSP00000303500.2:n.-144T>G
ENST00000546844.1:c.4T>G ENSP00000446658.1:p.Ser2Ala
ENST00000547319.1:n.315T>G
ENST00000549111.5:n.100T>G
ENST00000551337.5:c.4T>G ENSP00000447620.1:p.Ser2Ala
ENST00000551988.5:n.93T>G
ENST00000553106.5:c.4T>G ENSP00000448059.1:p.Ser2Ala
ENST00000635500.1:n.29-4229T>G
NM_000277.1:c.4T>G NP_000268.1:p.Ser2Ala
XM_011538422.1:c.4T>G XP_011536724.1:p.Ser2Ala
NM_000277.2:c.4T>G NP_000268.1:p.Ser2Ala
NM_001354304.1:c.4T>G NP_001341233.1:p.Ser2Ala
XM_017019370.2:c.4T>G XP_016874859.1:p.Ser2Ala
NM_000277.3:c.4T>G MANE Select NP_000268.1:p.Ser2Ala
NM_001354304.2:c.4T>G NP_001341233.1:p.Ser2Ala