Canonical Allele Identifier: CA386296902
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1311748050
gnomAD v2: 12-103249070-T-G
gnomAD v4: 12-102855292-T-G
MyVariant Identifiers: chr12:g.103249070T>G (hg19) chr12:g.102855292T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855292T>G , CM000674.2:g.102855292T>G GRCh38
NC_000012.11:g.103249070T>G , CM000674.1:g.103249070T>G GRCh37
NC_000012.10:g.101773200T>G NCBI36
NG_008690.1:g.67311A>C
NG_008690.2:g.108119A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.550A>C MANE Select ENSP00000448059.1:p.Lys184Gln
ENST00000307000.7:c.535A>C ENSP00000303500.2:p.Lys179Gln
ENST00000549111.5:n.646A>C
ENST00000551988.5:n.571A>C
ENST00000553106.5:c.550A>C ENSP00000448059.1:p.Lys184Gln
NM_000277.1:c.550A>C NP_000268.1:p.Lys184Gln
XM_011538422.1:c.550A>C XP_011536724.1:p.Lys184Gln
NM_000277.2:c.550A>C NP_000268.1:p.Lys184Gln
NM_001354304.1:c.550A>C NP_001341233.1:p.Lys184Gln
XM_017019370.2:c.550A>C XP_016874859.1:p.Lys184Gln
NM_000277.3:c.550A>C MANE Select NP_000268.1:p.Lys184Gln
NM_001354304.2:c.550A>C NP_001341233.1:p.Lys184Gln
Search 100 bp 5'
Search 100 bp 3'