Canonical Allele Identifier: CA386291756

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103240725A>G (hg19) ; chr12:g.102846947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846947A>G , CM000674.2:g.102846947A>G	GRCh38
NC_000012.11:g.103240725A>G , CM000674.1:g.103240725A>G	GRCh37
NC_000012.10:g.101764855A>G	NCBI36
NG_008690.1:g.75656T>C
NG_008690.2:g.116464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.917T>C MANE Select	ENSP00000448059.1:p.Ile306Thr
ENST00000307000.7:c.902T>C	ENSP00000303500.2:p.Ile301Thr
ENST00000549247.6:n.676T>C
ENST00000551114.2:n.579T>C
ENST00000553106.5:c.917T>C	ENSP00000448059.1:p.Ile306Thr
ENST00000635477.1:c.74-2516T>C
ENST00000635528.1:n.432T>C
NM_000277.1:c.917T>C	NP_000268.1:p.Ile306Thr
XM_011538422.1:c.913-2516T>C	XP_011536724.1:n.913-2516T>C
NM_000277.2:c.917T>C	NP_000268.1:p.Ile306Thr
NM_001354304.1:c.917T>C	NP_001341233.1:p.Ile306Thr
NM_000277.3:c.917T>C MANE Select	NP_000268.1:p.Ile306Thr
NM_001354304.2:c.917T>C	NP_001341233.1:p.Ile306Thr