Canonical Allele Identifier: CA481578571
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103249038C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855260C>G , CM000674.2:g.102855260C>G GRCh38
NC_000012.11:g.103249038C>G , CM000674.1:g.103249038C>G GRCh37
NC_000012.10:g.101773168C>G NCBI36
NG_008690.1:g.67343G>C
NG_008690.2:g.108151G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.582G>C MANE Select ENSP00000448059.1:p.Leu194=
ENST00000307000.7:c.567G>C ENSP00000303500.2:p.Leu189=
ENST00000549111.5:n.678G>C
ENST00000553106.5:c.582G>C ENSP00000448059.1:p.Leu194=
NM_000277.1:c.582G>C NP_000268.1:p.Leu194=
XM_011538422.1:c.582G>C XP_011536724.1:p.Leu194=
NM_000277.2:c.582G>C NP_000268.1:p.Leu194=
NM_001354304.1:c.582G>C NP_001341233.1:p.Leu194=
XM_017019370.2:c.582G>C XP_016874859.1:p.Leu194=
NM_000277.3:c.582G>C MANE Select NP_000268.1:p.Leu194=
NM_001354304.2:c.582G>C NP_001341233.1:p.Leu194=
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