Canonical Allele Identifier: CA386296959
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103249081A>G (hg19) chr12:g.102855303A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855303A>G , CM000674.2:g.102855303A>G GRCh38
NC_000012.11:g.103249081A>G , CM000674.1:g.103249081A>G GRCh37
NC_000012.10:g.101773211A>G NCBI36
NG_008690.1:g.67300T>C
NG_008690.2:g.108108T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.539T>C MANE Select ENSP00000448059.1:p.Met180Thr
ENST00000307000.7:c.524T>C ENSP00000303500.2:p.Met175Thr
ENST00000549111.5:n.635T>C
ENST00000551988.5:n.560T>C
ENST00000553106.5:c.539T>C ENSP00000448059.1:p.Met180Thr
NM_000277.1:c.539T>C NP_000268.1:p.Met180Thr
XM_011538422.1:c.539T>C XP_011536724.1:p.Met180Thr
NM_000277.2:c.539T>C NP_000268.1:p.Met180Thr
NM_001354304.1:c.539T>C NP_001341233.1:p.Met180Thr
XM_017019370.2:c.539T>C XP_016874859.1:p.Met180Thr
NM_000277.3:c.539T>C MANE Select NP_000268.1:p.Met180Thr
NM_001354304.2:c.539T>C NP_001341233.1:p.Met180Thr
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