Canonical Allele Identifier: CA6748838
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs62516149

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852831T>A , CM000674.2:g.102852831T>A GRCh38
NC_000012.11:g.103246609T>A , CM000674.1:g.103246609T>A GRCh37
NC_000012.10:g.101770739T>A NCBI36
NG_008690.1:g.69772A>T
NG_008690.2:g.110580A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.826A>T MANE Select ENSP00000448059.1:p.Met276Leu
ENST00000307000.7:c.811A>T ENSP00000303500.2:p.Met271Leu
ENST00000549247.6:n.585A>T
ENST00000553106.5:c.826A>T ENSP00000448059.1:p.Met276Leu
NM_000277.1:c.826A>T NP_000268.1:p.Met276Leu
XM_011538422.1:c.826A>T XP_011536724.1:p.Met276Leu
NM_000277.2:c.826A>T NP_000268.1:p.Met276Leu
NM_001354304.1:c.826A>T NP_001341233.1:p.Met276Leu
NM_000277.3:c.826A>T MANE Select NP_000268.1:p.Met276Leu
NM_001354304.2:c.826A>T NP_001341233.1:p.Met276Leu