Canonical Allele Identifier: CA6748964
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs775327122
ExAC: 12:103271323 A / G
gnomAD v2: 12-103271323-A-G
gnomAD v4: 12-102877545-A-G
MyVariant Identifiers: chr12:g.103271323A>G (hg19) chr12:g.103271323_103271324delinsGG (hg19) chr12:g.102877545A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877545A>G , CM000674.2:g.102877545A>G GRCh38
NC_000012.11:g.103271323A>G , CM000674.1:g.103271323A>G GRCh37
NC_000012.10:g.101795453A>G NCBI36
NG_008690.1:g.45058T>C
NG_008690.2:g.85866T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.358T>C MANE Select ENSP00000448059.1:p.Trp120Arg
ENST00000307000.7:c.343T>C ENSP00000303500.2:p.Trp115Arg
ENST00000549111.5:n.454T>C
ENST00000550978.6:c.342T>C
ENST00000551337.5:c.358T>C ENSP00000447620.1:p.Trp120Arg
ENST00000551988.5:n.447T>C
ENST00000553106.5:c.358T>C ENSP00000448059.1:p.Trp120Arg
NM_000277.1:c.358T>C NP_000268.1:p.Trp120Arg
XM_011538422.1:c.358T>C XP_011536724.1:p.Trp120Arg
NM_000277.2:c.358T>C NP_000268.1:p.Trp120Arg
NM_001354304.1:c.358T>C NP_001341233.1:p.Trp120Arg
XM_017019370.2:c.358T>C XP_016874859.1:p.Trp120Arg
NM_000277.3:c.358T>C MANE Select NP_000268.1:p.Trp120Arg
NM_001354304.2:c.358T>C NP_001341233.1:p.Trp120Arg
Search 100 bp 5'
Search 100 bp 3'