Canonical Allele Identifier: CA180268

Gene: PAH

Linked Data

• ClinVar Variation Id: 167414
• ClinVar RCV Id: RCV000153637 ; RCV001514637
• dbSNP Id: rs1126758
• ExAC: 12:103248924 C / T
• gnomAD v2: 12-103248924-C-T
• gnomAD v3: 12-102855146-C-T
• gnomAD v4: 12-102855146-C-T
• MyVariant Identifiers: chr12:g.103248924C>T (hg19) ; chr12:g.102855146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855146C>T , CM000674.2:g.102855146C>T	GRCh38
NC_000012.11:g.103248924C>T , CM000674.1:g.103248924C>T	GRCh37
NC_000012.10:g.101773054C>T	NCBI36
NG_008690.2:g.108265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.696G>A MANE Select	ENSP00000448059.1:p.Gln232=
ENST00000307000.7:c.681G>A	ENSP00000303500.2:p.Gln227=
ENST00000549111.5:n.792G>A
ENST00000553106.5:c.696G>A	ENSP00000448059.1:p.Gln232=
XM_011538422.1:c.696G>A	XP_011536724.1:p.Gln232=
NM_000277.2:c.696G>A	NP_000268.1:p.Gln232=
NM_001354304.1:c.696G>A	NP_001341233.1:p.Gln232=
XM_017019370.2:c.696G>A	XP_016874859.1:p.Gln232=
NM_000277.3:c.696G>A MANE Select	NP_000268.1:p.Gln232=
NM_001354304.2:c.696G>A	NP_001341233.1:p.Gln232=