Canonical Allele Identifier: CA386493238
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237485T>G (hg19) chr12:g.102843707T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843707T>G , CM000674.2:g.102843707T>G GRCh38
NC_000012.11:g.103237485T>G , CM000674.1:g.103237485T>G GRCh37
NC_000012.10:g.101761615T>G NCBI36
NG_008690.1:g.78896A>C
NG_008690.2:g.119704A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1138A>C MANE Select ENSP00000448059.1:p.Thr380Pro
ENST00000307000.7:c.1123A>C ENSP00000303500.2:p.Thr375Pro
ENST00000549247.6:n.897A>C
ENST00000551114.2:n.800A>C
ENST00000553106.5:c.1138A>C ENSP00000448059.1:p.Thr380Pro
ENST00000635477.1:c.242A>C
ENST00000635528.1:n.653A>C
NM_000277.1:c.1138A>C NP_000268.1:p.Thr380Pro
XM_011538422.1:c.1081A>C XP_011536724.1:p.Thr361Pro
NM_000277.2:c.1138A>C NP_000268.1:p.Thr380Pro
NM_001354304.1:c.1138A>C NP_001341233.1:p.Thr380Pro
NM_000277.3:c.1138A>C MANE Select NP_000268.1:p.Thr380Pro
NM_001354304.2:c.1138A>C NP_001341233.1:p.Thr380Pro
Search 100 bp 5'
Search 100 bp 3'