Canonical Allele Identifier: CA481330715
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103240685T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846907T>C , CM000674.2:g.102846907T>C GRCh38
NC_000012.11:g.103240685T>C , CM000674.1:g.103240685T>C GRCh37
NC_000012.10:g.101764815T>C NCBI36
NG_008690.1:g.75696A>G
NG_008690.2:g.116504A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.957A>G MANE Select ENSP00000448059.1:p.Glu319=
ENST00000307000.7:c.942A>G ENSP00000303500.2:p.Glu314=
ENST00000549247.6:n.716A>G
ENST00000551114.2:n.619A>G
ENST00000553106.5:c.957A>G ENSP00000448059.1:p.Glu319=
ENST00000635477.1:n.74-2476A>G
ENST00000635528.1:n.472A>G
NM_000277.1:c.957A>G NP_000268.1:p.Glu319=
XM_011538422.1:c.913-2476A>G XP_011536724.1:n.913-2476A>G
NM_000277.2:c.957A>G NP_000268.1:p.Glu319=
NM_001354304.1:c.957A>G NP_001341233.1:p.Glu319=
NM_000277.3:c.957A>G MANE Select NP_000268.1:p.Glu319=
NM_001354304.2:c.957A>G NP_001341233.1:p.Glu319=