Canonical Allele Identifier: CA386291548
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846903G>C , CM000674.2:g.102846903G>C GRCh38
NC_000012.11:g.103240681G>C , CM000674.1:g.103240681G>C GRCh37
NC_000012.10:g.101764811G>C NCBI36
NG_008690.1:g.75700C>G
NG_008690.2:g.116508C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.961C>G MANE Select ENSP00000448059.1:p.Leu321Val
ENST00000307000.7:c.946C>G ENSP00000303500.2:p.Leu316Val
ENST00000549247.6:n.720C>G
ENST00000551114.2:n.623C>G
ENST00000553106.5:c.961C>G ENSP00000448059.1:p.Leu321Val
ENST00000635477.1:n.74-2472C>G
ENST00000635528.1:n.476C>G
NM_000277.1:c.961C>G NP_000268.1:p.Leu321Val
XM_011538422.1:c.913-2472C>G XP_011536724.1:n.913-2472C>G
NM_000277.2:c.961C>G NP_000268.1:p.Leu321Val
NM_001354304.1:c.961C>G NP_001341233.1:p.Leu321Val
NM_000277.3:c.961C>G MANE Select NP_000268.1:p.Leu321Val
NM_001354304.2:c.961C>G NP_001341233.1:p.Leu321Val