Canonical Allele Identifier: CA481375372

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234257A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840479A>C , CM000674.2:g.102840479A>C	GRCh38
NC_000012.11:g.103234257A>C , CM000674.1:g.103234257A>C	GRCh37
NC_000012.10:g.101758387A>C	NCBI36
NG_008690.1:g.82124T>G
NG_008690.2:g.122932T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1236T>G MANE Select	ENSP00000448059.1:p.Val412=
ENST00000307000.7:c.1221T>G	ENSP00000303500.2:p.Val407=
ENST00000551114.2:n.898T>G
ENST00000553106.5:c.1236T>G	ENSP00000448059.1:p.Val412=
ENST00000635477.1:c.340T>G
ENST00000635528.1:n.751T>G
NM_000277.1:c.1236T>G	NP_000268.1:p.Val412=
XM_011538422.1:c.1179T>G	XP_011536724.1:p.Val393=
NM_000277.2:c.1236T>G	NP_000268.1:p.Val412=
NM_001354304.1:c.1236T>G	NP_001341233.1:p.Val412=
NM_000277.3:c.1236T>G MANE Select	NP_000268.1:p.Val412=
NM_001354304.2:c.1236T>G	NP_001341233.1:p.Val412=