Canonical Allele Identifier: CA229606
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102724
ClinVar RCV Id: RCV000088972 RCV000810165
dbSNP Id: rs74486803
ExAC: 12:103249093 C / T
gnomAD v2: 12-103249093-C-T
gnomAD v3: 12-102855315-C-T
gnomAD v4: 12-102855315-C-T
MyVariant Identifiers: chr12:g.103249093C>T (hg19) chr12:g.102855315C>T (hg38)
ERepo: CA229606/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855315C>T , CM000674.2:g.102855315C>T GRCh38
NC_000012.11:g.103249093C>T , CM000674.1:g.103249093C>T GRCh37
NC_000012.10:g.101773223C>T NCBI36
NG_008690.1:g.67288G>A
NG_008690.2:g.108096G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.527G>A MANE Select ENSP00000448059.1:p.Arg176Gln
ENST00000307000.7:c.512G>A ENSP00000303500.2:p.Arg171Gln
ENST00000549111.5:n.623G>A
ENST00000551988.5:n.548G>A
ENST00000553106.5:c.527G>A ENSP00000448059.1:p.Arg176Gln
NM_000277.1:c.527G>A NP_000268.1:p.Arg176Gln
XM_011538422.1:c.527G>A XP_011536724.1:p.Arg176Gln
NM_000277.2:c.527G>A NP_000268.1:p.Arg176Gln
NM_001354304.1:c.527G>A NP_001341233.1:p.Arg176Gln
XM_017019370.2:c.527G>A XP_016874859.1:p.Arg176Gln
NM_000277.3:c.527G>A MANE Select NP_000268.1:p.Arg176Gln
NM_001354304.2:c.527G>A NP_001341233.1:p.Arg176Gln
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