Canonical Allele Identifier: CA386296559
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103248926G>T (hg19) chr12:g.102855148G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855148G>T , CM000674.2:g.102855148G>T GRCh38
NC_000012.11:g.103248926G>T , CM000674.1:g.103248926G>T GRCh37
NC_000012.10:g.101773056G>T NCBI36
NG_008690.1:g.67455C>A
NG_008690.2:g.108263C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.694C>A MANE Select ENSP00000448059.1:p.Gln232Lys
ENST00000307000.7:c.679C>A ENSP00000303500.2:p.Gln227Lys
ENST00000549111.5:n.790C>A
ENST00000553106.5:c.694C>A ENSP00000448059.1:p.Gln232Lys
NM_000277.1:c.694C>A NP_000268.1:p.Gln232Lys
XM_011538422.1:c.694C>A XP_011536724.1:p.Gln232Lys
NM_000277.2:c.694C>A NP_000268.1:p.Gln232Lys
NM_001354304.1:c.694C>A NP_001341233.1:p.Gln232Lys
XM_017019370.2:c.694C>A XP_016874859.1:p.Gln232Lys
NM_000277.3:c.694C>A MANE Select NP_000268.1:p.Gln232Lys
NM_001354304.2:c.694C>A NP_001341233.1:p.Gln232Lys
Search 100 bp 5'
Search 100 bp 3'