Canonical Allele Identifier: CA481331459
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103246637T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852859T>C , CM000674.2:g.102852859T>C GRCh38
NC_000012.11:g.103246637T>C , CM000674.1:g.103246637T>C GRCh37
NC_000012.10:g.101770767T>C NCBI36
NG_008690.1:g.69744A>G
NG_008690.2:g.110552A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.798A>G MANE Select ENSP00000448059.1:p.Thr266=
ENST00000307000.7:c.783A>G ENSP00000303500.2:p.Thr261=
ENST00000549247.6:n.557A>G
ENST00000553106.5:c.798A>G ENSP00000448059.1:p.Thr266=
NM_000277.1:c.798A>G NP_000268.1:p.Thr266=
XM_011538422.1:c.798A>G XP_011536724.1:p.Thr266=
NM_000277.2:c.798A>G NP_000268.1:p.Thr266=
NM_001354304.1:c.798A>G NP_001341233.1:p.Thr266=
NM_000277.3:c.798A>G MANE Select NP_000268.1:p.Thr266=
NM_001354304.2:c.798A>G NP_001341233.1:p.Thr266=