Canonical Allele Identifier: CA229290
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102482
ClinVar RCV Id: RCV000088713 RCV000674226
dbSNP Id: rs62508582
MyVariant Identifiers: chr12:g.103238148C>A (hg19) chr12:g.102844370C>A (hg38)
ERepo: CA229290/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844370C>A , CM000674.2:g.102844370C>A GRCh38
NC_000012.11:g.103238148C>A , CM000674.1:g.103238148C>A GRCh37
NC_000012.10:g.101762278C>A NCBI36
NG_008690.1:g.78233G>T
NG_008690.2:g.119041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1031G>T MANE Select ENSP00000448059.1:p.Gly344Val
ENST00000307000.7:c.1016G>T ENSP00000303500.2:p.Gly339Val
ENST00000549247.6:n.790G>T
ENST00000551114.2:n.693G>T
ENST00000553106.5:c.1031G>T ENSP00000448059.1:p.Gly344Val
ENST00000635477.1:c.135G>T
ENST00000635528.1:n.546G>T
NM_000277.1:c.1031G>T NP_000268.1:p.Gly344Val
XM_011538422.1:c.974G>T XP_011536724.1:p.Gly325Val
NM_000277.2:c.1031G>T NP_000268.1:p.Gly344Val
NM_001354304.1:c.1031G>T NP_001341233.1:p.Gly344Val
NM_000277.3:c.1031G>T MANE Select NP_000268.1:p.Gly344Val
NM_001354304.2:c.1031G>T NP_001341233.1:p.Gly344Val
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