Canonical Allele Identifier: CA386302079
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1876620559
gnomAD v3: 12-102877473-C-T
gnomAD v4: 12-102877473-C-T
MyVariant Identifiers: chr12:g.103271251C>T (hg19) chr12:g.102877473C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877473C>T , CM000674.2:g.102877473C>T GRCh38
NC_000012.11:g.103271251C>T , CM000674.1:g.103271251C>T GRCh37
NC_000012.10:g.101795381C>T NCBI36
NG_008690.1:g.45130G>A
NG_008690.2:g.85938G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.430G>A MANE Select ENSP00000448059.1:p.Ala144Thr
ENST00000307000.7:c.415G>A ENSP00000303500.2:p.Ala139Thr
ENST00000549111.5:n.526G>A
ENST00000550978.6:c.414G>A
ENST00000551988.5:n.519G>A
ENST00000553106.5:c.430G>A ENSP00000448059.1:p.Ala144Thr
NM_000277.1:c.430G>A NP_000268.1:p.Ala144Thr
XM_011538422.1:c.430G>A XP_011536724.1:p.Ala144Thr
NM_000277.2:c.430G>A NP_000268.1:p.Ala144Thr
NM_001354304.1:c.430G>A NP_001341233.1:p.Ala144Thr
XM_017019370.2:c.430G>A XP_016874859.1:p.Ala144Thr
NM_000277.3:c.430G>A MANE Select NP_000268.1:p.Ala144Thr
NM_001354304.2:c.430G>A NP_001341233.1:p.Ala144Thr
Search 100 bp 5'
Search 100 bp 3'