Canonical Allele Identifier: CA481330951

Gene: PAH

Linked Data

• ClinVar Variation Id: 1094563
• ClinVar RCV Id: RCV001415115
• dbSNP Id: rs920882128
• MyVariant Identifiers: chr12:g.103240721G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846943G>A , CM000674.2:g.102846943G>A	GRCh38
NC_000012.11:g.103240721G>A , CM000674.1:g.103240721G>A	GRCh37
NC_000012.10:g.101764851G>A	NCBI36
NG_008690.1:g.75660C>T
NG_008690.2:g.116468C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.921C>T MANE Select	ENSP00000448059.1:p.Gly307=
ENST00000307000.7:c.906C>T	ENSP00000303500.2:p.Gly302=
ENST00000549247.6:n.680C>T
ENST00000551114.2:n.583C>T
ENST00000553106.5:c.921C>T	ENSP00000448059.1:p.Gly307=
ENST00000635477.1:c.74-2512C>T
ENST00000635528.1:n.436C>T
NM_000277.1:c.921C>T	NP_000268.1:p.Gly307=
XM_011538422.1:c.913-2512C>T	XP_011536724.1:n.913-2512C>T
NM_000277.2:c.921C>T	NP_000268.1:p.Gly307=
NM_001354304.1:c.921C>T	NP_001341233.1:p.Gly307=
NM_000277.3:c.921C>T MANE Select	NP_000268.1:p.Gly307=
NM_001354304.2:c.921C>T	NP_001341233.1:p.Gly307=