Canonical Allele Identifier: CA386296646
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM1358233
MyVariant Identifiers: chr12:g.103248976T>A (hg19) chr12:g.102855198T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855198T>A , CM000674.2:g.102855198T>A GRCh38
NC_000012.11:g.103248976T>A , CM000674.1:g.103248976T>A GRCh37
NC_000012.10:g.101773106T>A NCBI36
NG_008690.1:g.67405A>T
NG_008690.2:g.108213A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.644A>T MANE Select ENSP00000448059.1:p.Lys215Met
ENST00000307000.7:c.629A>T ENSP00000303500.2:p.Lys210Met
ENST00000549111.5:n.740A>T
ENST00000553106.5:c.644A>T ENSP00000448059.1:p.Lys215Met
NM_000277.1:c.644A>T NP_000268.1:p.Lys215Met
XM_011538422.1:c.644A>T XP_011536724.1:p.Lys215Met
NM_000277.2:c.644A>T NP_000268.1:p.Lys215Met
NM_001354304.1:c.644A>T NP_001341233.1:p.Lys215Met
XM_017019370.2:c.644A>T XP_016874859.1:p.Lys215Met
NM_000277.3:c.644A>T MANE Select NP_000268.1:p.Lys215Met
NM_001354304.2:c.644A>T NP_001341233.1:p.Lys215Met
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