Canonical Allele Identifier: CA951235127

Gene: PAH

Linked Data

• dbSNP Id: rs1875197528
• gnomAD v3: 12-102852486-A-G
• gnomAD v4: 12-102852486-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852486A>G , CM000674.2:g.102852486A>G	GRCh38
NC_000012.11:g.103246264A>G , CM000674.1:g.103246264A>G	GRCh37
NC_000012.10:g.101770394A>G	NCBI36
NG_008690.1:g.70117T>C
NG_008690.2:g.110925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+329T>C MANE Select	ENSP00000448059.1:n.842+329T>C
ENST00000307000.7:c.827+329T>C	ENSP00000303500.2:n.827+329T>C
ENST00000549247.6:n.601+329T>C
ENST00000553106.5:c.842+329T>C	ENSP00000448059.1:n.842+329T>C
ENST00000635477.1:c.3+329T>C
NM_000277.1:c.842+329T>C	NP_000268.1:n.842+329T>C
XM_011538422.1:c.842+329T>C	XP_011536724.1:n.842+329T>C
NM_000277.2:c.842+329T>C	NP_000268.1:n.842+329T>C
NM_001354304.1:c.842+329T>C	NP_001341233.1:n.842+329T>C
NM_000277.3:c.842+329T>C MANE Select	NP_000268.1:n.842+329T>C
NM_001354304.2:c.842+329T>C	NP_001341233.1:n.842+329T>C