Canonical Allele Identifier: CA386296594
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2139677
ClinVar RCV Id: RCV003052722
gnomAD v4: 12-102855172-T-G
MyVariant Identifiers: chr12:g.103248950T>G (hg19) chr12:g.102855172T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855172T>G , CM000674.2:g.102855172T>G GRCh38
NC_000012.11:g.103248950T>G , CM000674.1:g.103248950T>G GRCh37
NC_000012.10:g.101773080T>G NCBI36
NG_008690.1:g.67431A>C
NG_008690.2:g.108239A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.670A>C MANE Select ENSP00000448059.1:p.Ile224Leu
ENST00000307000.7:c.655A>C ENSP00000303500.2:p.Ile219Leu
ENST00000549111.5:n.766A>C
ENST00000553106.5:c.670A>C ENSP00000448059.1:p.Ile224Leu
NM_000277.1:c.670A>C NP_000268.1:p.Ile224Leu
XM_011538422.1:c.670A>C XP_011536724.1:p.Ile224Leu
NM_000277.2:c.670A>C NP_000268.1:p.Ile224Leu
NM_001354304.1:c.670A>C NP_001341233.1:p.Ile224Leu
XM_017019370.2:c.670A>C XP_016874859.1:p.Ile224Leu
NM_000277.3:c.670A>C MANE Select NP_000268.1:p.Ile224Leu
NM_001354304.2:c.670A>C NP_001341233.1:p.Ile224Leu
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