Canonical Allele Identifier: CA242743425
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs865968546
gnomAD v4: 12-102840432-T-C
MyVariant Identifiers: chr12:g.103234210T>C (hg19) chr12:g.102840432T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840432T>C , CM000674.2:g.102840432T>C GRCh38
NC_000012.11:g.103234210T>C , CM000674.1:g.103234210T>C GRCh37
NC_000012.10:g.101758340T>C NCBI36
NG_008690.1:g.82171A>G
NG_008690.2:g.122979A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1283A>G MANE Select ENSP00000448059.1:p.Gln428Arg
ENST00000307000.7:c.1268A>G ENSP00000303500.2:p.Gln423Arg
ENST00000551114.2:n.945A>G
ENST00000553106.5:c.1283A>G ENSP00000448059.1:p.Gln428Arg
ENST00000635477.1:c.387A>G
ENST00000635528.1:n.798A>G
NM_000277.1:c.1283A>G NP_000268.1:p.Gln428Arg
XM_011538422.1:c.1226A>G XP_011536724.1:p.Gln409Arg
NM_000277.2:c.1283A>G NP_000268.1:p.Gln428Arg
NM_001354304.1:c.1283A>G NP_001341233.1:p.Gln428Arg
NM_000277.3:c.1283A>G MANE Select NP_000268.1:p.Gln428Arg
NM_001354304.2:c.1283A>G NP_001341233.1:p.Gln428Arg
Search 100 bp 5'
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