Canonical Allele Identifier: CA229272
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102470
ClinVar RCV Id: RCV000088701 RCV002259581
dbSNP Id: rs62517200
MyVariant Identifiers: chr12:g.103238158T>A (hg19) chr12:g.102844380T>A (hg38)
ERepo: CA229272/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844380T>A , CM000674.2:g.102844380T>A GRCh38
NC_000012.11:g.103238158T>A , CM000674.1:g.103238158T>A GRCh37
NC_000012.10:g.101762288T>A NCBI36
NG_008690.1:g.78223A>T
NG_008690.2:g.119031A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1021A>T MANE Select ENSP00000448059.1:p.Lys341Ter
ENST00000307000.7:c.1006A>T ENSP00000303500.2:p.Lys336Ter
ENST00000549247.6:n.780A>T
ENST00000551114.2:n.683A>T
ENST00000553106.5:c.1021A>T ENSP00000448059.1:p.Lys341Ter
ENST00000635477.1:c.125A>T
ENST00000635528.1:n.536A>T
NM_000277.1:c.1021A>T NP_000268.1:p.Lys341Ter
XM_011538422.1:c.964A>T XP_011536724.1:p.Lys322Ter
NM_000277.2:c.1021A>T NP_000268.1:p.Lys341Ter
NM_001354304.1:c.1021A>T NP_001341233.1:p.Lys341Ter
NM_000277.3:c.1021A>T MANE Select NP_000268.1:p.Lys341Ter
NM_001354304.2:c.1021A>T NP_001341233.1:p.Lys341Ter
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