Canonical Allele Identifier: CA386294510

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103245529A>C (hg19) ; chr12:g.102851751A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851751A>C , CM000674.2:g.102851751A>C	GRCh38
NC_000012.11:g.103245529A>C , CM000674.1:g.103245529A>C	GRCh37
NC_000012.10:g.101769659A>C	NCBI36
NG_008690.1:g.70852T>G
NG_008690.2:g.111660T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.848T>G MANE Select	ENSP00000448059.1:p.Ile283Ser
ENST00000307000.7:c.833T>G	ENSP00000303500.2:p.Ile278Ser
ENST00000549247.6:n.607T>G
ENST00000551114.2:n.510T>G
ENST00000553106.5:c.848T>G	ENSP00000448059.1:p.Ile283Ser
ENST00000635477.1:c.9T>G
NM_000277.1:c.848T>G	NP_000268.1:p.Ile283Ser
XM_011538422.1:c.848T>G	XP_011536724.1:p.Ile283Ser
NM_000277.2:c.848T>G	NP_000268.1:p.Ile283Ser
NM_001354304.1:c.848T>G	NP_001341233.1:p.Ile283Ser
NM_000277.3:c.848T>G MANE Select	NP_000268.1:p.Ile283Ser
NM_001354304.2:c.848T>G	NP_001341233.1:p.Ile283Ser