Canonical Allele Identifier: CA251524
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 578
dbSNP Id: rs62642936

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846932A>G , CM000674.2:g.102846932A>G GRCh38
NC_000012.11:g.103240710A>G , CM000674.1:g.103240710A>G GRCh37
NC_000012.10:g.101764840A>G NCBI36
NG_008690.1:g.75671T>C
NG_008690.2:g.116479T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.932T>C MANE Select ENSP00000448059.1:p.Leu311Pro
ENST00000307000.7:c.917T>C ENSP00000303500.2:p.Leu306Pro
ENST00000549247.6:n.691T>C
ENST00000551114.2:n.594T>C
ENST00000553106.5:c.932T>C ENSP00000448059.1:p.Leu311Pro
ENST00000635477.1:c.74-2501T>C
ENST00000635528.1:n.447T>C
NM_000277.1:c.932T>C NP_000268.1:p.Leu311Pro
XM_011538422.1:c.913-2501T>C XP_011536724.1:n.913-2501T>C
NM_000277.2:c.932T>C NP_000268.1:p.Leu311Pro
NM_001354304.1:c.932T>C NP_001341233.1:p.Leu311Pro
NM_000277.3:c.932T>C MANE Select NP_000268.1:p.Leu311Pro
NM_001354304.2:c.932T>C NP_001341233.1:p.Leu311Pro