Canonical Allele Identifier: CA386493028
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM1706138
MyVariant Identifiers: chr12:g.103234234C>T (hg19) chr12:g.102840456C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840456C>T , CM000674.2:g.102840456C>T GRCh38
NC_000012.11:g.103234234C>T , CM000674.1:g.103234234C>T GRCh37
NC_000012.10:g.101758364C>T NCBI36
NG_008690.1:g.82147G>A
NG_008690.2:g.122955G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1259G>A MANE Select ENSP00000448059.1:p.Arg420Lys
ENST00000307000.7:c.1244G>A ENSP00000303500.2:p.Arg415Lys
ENST00000551114.2:n.921G>A
ENST00000553106.5:c.1259G>A ENSP00000448059.1:p.Arg420Lys
ENST00000635477.1:c.363G>A
ENST00000635528.1:n.774G>A
NM_000277.1:c.1259G>A NP_000268.1:p.Arg420Lys
XM_011538422.1:c.1202G>A XP_011536724.1:p.Arg401Lys
NM_000277.2:c.1259G>A NP_000268.1:p.Arg420Lys
NM_001354304.1:c.1259G>A NP_001341233.1:p.Arg420Lys
NM_000277.3:c.1259G>A MANE Select NP_000268.1:p.Arg420Lys
NM_001354304.2:c.1259G>A NP_001341233.1:p.Arg420Lys
Search 100 bp 5'
Search 100 bp 3'