Canonical Allele Identifier: CA386493334
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237540C>A (hg19) chr12:g.102843762C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843762C>A , CM000674.2:g.102843762C>A GRCh38
NC_000012.11:g.103237540C>A , CM000674.1:g.103237540C>A GRCh37
NC_000012.10:g.101761670C>A NCBI36
NG_008690.1:g.78841G>T
NG_008690.2:g.119649G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1083G>T MANE Select ENSP00000448059.1:p.Lys361Asn
ENST00000307000.7:c.1068G>T ENSP00000303500.2:p.Lys356Asn
ENST00000549247.6:n.842G>T
ENST00000551114.2:n.745G>T
ENST00000553106.5:c.1083G>T ENSP00000448059.1:p.Lys361Asn
ENST00000635477.1:c.187G>T
ENST00000635528.1:n.598G>T
NM_000277.1:c.1083G>T NP_000268.1:p.Lys361Asn
XM_011538422.1:c.1026G>T XP_011536724.1:p.Lys342Asn
NM_000277.2:c.1083G>T NP_000268.1:p.Lys361Asn
NM_001354304.1:c.1083G>T NP_001341233.1:p.Lys361Asn
NM_000277.3:c.1083G>T MANE Select NP_000268.1:p.Lys361Asn
NM_001354304.2:c.1083G>T NP_001341233.1:p.Lys361Asn
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