Canonical Allele Identifier: CA386493336
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237541T>A (hg19) chr12:g.102843763T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843763T>A , CM000674.2:g.102843763T>A GRCh38
NC_000012.11:g.103237541T>A , CM000674.1:g.103237541T>A GRCh37
NC_000012.10:g.101761671T>A NCBI36
NG_008690.1:g.78840A>T
NG_008690.2:g.119648A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1082A>T MANE Select ENSP00000448059.1:p.Lys361Met
ENST00000307000.7:c.1067A>T ENSP00000303500.2:p.Lys356Met
ENST00000549247.6:n.841A>T
ENST00000551114.2:n.744A>T
ENST00000553106.5:c.1082A>T ENSP00000448059.1:p.Lys361Met
ENST00000635477.1:c.186A>T
ENST00000635528.1:n.597A>T
NM_000277.1:c.1082A>T NP_000268.1:p.Lys361Met
XM_011538422.1:c.1025A>T XP_011536724.1:p.Lys342Met
NM_000277.2:c.1082A>T NP_000268.1:p.Lys361Met
NM_001354304.1:c.1082A>T NP_001341233.1:p.Lys361Met
NM_000277.3:c.1082A>T MANE Select NP_000268.1:p.Lys361Met
NM_001354304.2:c.1082A>T NP_001341233.1:p.Lys361Met
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