Canonical Allele Identifier: CA229640
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102748
ClinVar RCV Id: RCV000088997 RCV001789758
dbSNP Id: rs62508643
MyVariant Identifiers: chr12:g.103249021_103249022insT (hg19) chr12:g.102855243_102855244insT (hg38)
ERepo: CA229640/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855247dup , CM000674.2:g.102855247dup GRCh38
NC_000012.11:g.103249025dup , CM000674.1:g.103249025dup GRCh37
NC_000012.10:g.101773155dup NCBI36
NG_008690.1:g.67359dup
NG_008690.2:g.108167dup

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.598dup MANE Select ENSP00000448059.1:p.Thr200AsnfsTer6
ENST00000307000.7:c.583dup ENSP00000303500.2:p.Thr195AsnfsTer6
ENST00000549111.5:n.694dup
ENST00000553106.5:c.598dup ENSP00000448059.1:p.Thr200AsnfsTer6
NM_000277.1:c.598dup NP_000268.1:p.Thr200AsnfsTer6
XM_011538422.1:c.598dup XP_011536724.1:p.Thr200AsnfsTer6
NM_000277.2:c.598dup NP_000268.1:p.Thr200AsnfsTer6
NM_001354304.1:c.598dup NP_001341233.1:p.Thr200AsnfsTer6
XM_017019370.2:c.598dup XP_016874859.1:p.Thr200AsnfsTer6
NM_000277.3:c.598dup MANE Select NP_000268.1:p.Thr200AsnfsTer6
NM_001354304.2:c.598dup NP_001341233.1:p.Thr200AsnfsTer6
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