Canonical Allele Identifier: CA386296782
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875369263
gnomAD v4: 12-102855266-C-G
MyVariant Identifiers: chr12:g.103249044C>G (hg19) chr12:g.102855266C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855266C>G , CM000674.2:g.102855266C>G GRCh38
NC_000012.11:g.103249044C>G , CM000674.1:g.103249044C>G GRCh37
NC_000012.10:g.101773174C>G NCBI36
NG_008690.1:g.67337G>C
NG_008690.2:g.108145G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.576G>C MANE Select ENSP00000448059.1:p.Lys192Asn
ENST00000307000.7:c.561G>C ENSP00000303500.2:p.Lys187Asn
ENST00000549111.5:n.672G>C
ENST00000553106.5:c.576G>C ENSP00000448059.1:p.Lys192Asn
NM_000277.1:c.576G>C NP_000268.1:p.Lys192Asn
XM_011538422.1:c.576G>C XP_011536724.1:p.Lys192Asn
NM_000277.2:c.576G>C NP_000268.1:p.Lys192Asn
NM_001354304.1:c.576G>C NP_001341233.1:p.Lys192Asn
XM_017019370.2:c.576G>C XP_016874859.1:p.Lys192Asn
NM_000277.3:c.576G>C MANE Select NP_000268.1:p.Lys192Asn
NM_001354304.2:c.576G>C NP_001341233.1:p.Lys192Asn
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