Canonical Allele Identifier: CA386296662
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 430401
ClinVar RCV Id: RCV000493939 RCV000672958
dbSNP Id: rs1131691945
gnomAD v4: 12-102855205-G-A
MyVariant Identifiers: chr12:g.103248983G>A (hg19) chr12:g.102855205G>A (hg38)
ERepo: CA386296662/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855205G>A , CM000674.2:g.102855205G>A GRCh38
NC_000012.11:g.103248983G>A , CM000674.1:g.103248983G>A GRCh37
NC_000012.10:g.101773113G>A NCBI36
NG_008690.1:g.67398C>T
NG_008690.2:g.108206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.637C>T MANE Select ENSP00000448059.1:p.Leu213Phe
ENST00000307000.7:c.622C>T ENSP00000303500.2:p.Leu208Phe
ENST00000549111.5:n.733C>T
ENST00000553106.5:c.637C>T ENSP00000448059.1:p.Leu213Phe
NM_000277.1:c.637C>T NP_000268.1:p.Leu213Phe
XM_011538422.1:c.637C>T XP_011536724.1:p.Leu213Phe
NM_000277.2:c.637C>T NP_000268.1:p.Leu213Phe
NM_001354304.1:c.637C>T NP_001341233.1:p.Leu213Phe
XM_017019370.2:c.637C>T XP_016874859.1:p.Leu213Phe
NM_000277.3:c.637C>T MANE Select NP_000268.1:p.Leu213Phe
NM_001354304.2:c.637C>T NP_001341233.1:p.Leu213Phe
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