Canonical Allele Identifier: CA6748837
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs62508722

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852830A>G , CM000674.2:g.102852830A>G GRCh38
NC_000012.11:g.103246608A>G , CM000674.1:g.103246608A>G GRCh37
NC_000012.10:g.101770738A>G NCBI36
NG_008690.1:g.69773T>C
NG_008690.2:g.110581T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.827T>C MANE Select ENSP00000448059.1:p.Met276Thr
ENST00000307000.7:c.812T>C ENSP00000303500.2:p.Met271Thr
ENST00000549247.6:n.586T>C
ENST00000553106.5:c.827T>C ENSP00000448059.1:p.Met276Thr
NM_000277.1:c.827T>C NP_000268.1:p.Met276Thr
XM_011538422.1:c.827T>C XP_011536724.1:p.Met276Thr
NM_000277.2:c.827T>C NP_000268.1:p.Met276Thr
NM_001354304.1:c.827T>C NP_001341233.1:p.Met276Thr
NM_000277.3:c.827T>C MANE Select NP_000268.1:p.Met276Thr
NM_001354304.2:c.827T>C NP_001341233.1:p.Met276Thr