Canonical Allele Identifier: CA481375363

Gene: PAH

Linked Data

• ClinVar Variation Id: 1157741
• ClinVar RCV Id: RCV001500882
• dbSNP Id: rs755787172
• MyVariant Identifiers: chr12:g.103234239G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840461G>T , CM000674.2:g.102840461G>T	GRCh38
NC_000012.11:g.103234239G>T , CM000674.1:g.103234239G>T	GRCh37
NC_000012.10:g.101758369G>T	NCBI36
NG_008690.1:g.82142C>A
NG_008690.2:g.122950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1254C>A MANE Select	ENSP00000448059.1:p.Thr418=
ENST00000307000.7:c.1239C>A	ENSP00000303500.2:p.Thr413=
ENST00000551114.2:n.916C>A
ENST00000553106.5:c.1254C>A	ENSP00000448059.1:p.Thr418=
ENST00000635477.1:c.358C>A
ENST00000635528.1:n.769C>A
NM_000277.1:c.1254C>A	NP_000268.1:p.Thr418=
XM_011538422.1:c.1197C>A	XP_011536724.1:p.Thr399=
NM_000277.2:c.1254C>A	NP_000268.1:p.Thr418=
NM_001354304.1:c.1254C>A	NP_001341233.1:p.Thr418=
NM_000277.3:c.1254C>A MANE Select	NP_000268.1:p.Thr418=
NM_001354304.2:c.1254C>A	NP_001341233.1:p.Thr418=