Canonical Allele Identifier: CA481375659
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102843729-T-C
MyVariant Identifiers: chr12:g.103237507T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843729T>C , CM000674.2:g.102843729T>C GRCh38
NC_000012.11:g.103237507T>C , CM000674.1:g.103237507T>C GRCh37
NC_000012.10:g.101761637T>C NCBI36
NG_008690.1:g.78874A>G
NG_008690.2:g.119682A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1116A>G MANE Select ENSP00000448059.1:p.Thr372=
ENST00000307000.7:c.1101A>G ENSP00000303500.2:p.Thr367=
ENST00000549247.6:n.875A>G
ENST00000551114.2:n.778A>G
ENST00000553106.5:c.1116A>G ENSP00000448059.1:p.Thr372=
ENST00000635477.1:c.220A>G
ENST00000635528.1:n.631A>G
NM_000277.1:c.1116A>G NP_000268.1:p.Thr372=
XM_011538422.1:c.1059A>G XP_011536724.1:p.Thr353=
NM_000277.2:c.1116A>G NP_000268.1:p.Thr372=
NM_001354304.1:c.1116A>G NP_001341233.1:p.Thr372=
NM_000277.3:c.1116A>G MANE Select NP_000268.1:p.Thr372=
NM_001354304.2:c.1116A>G NP_001341233.1:p.Thr372=
Search 100 bp 5'
Search 100 bp 3'