Canonical Allele Identifier: CA951235132

Gene: PAH

Linked Data

• dbSNP Id: rs1875199205
• gnomAD v3: 12-102852522-A-C
• gnomAD v4: 12-102852522-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852522A>C , CM000674.2:g.102852522A>C	GRCh38
NC_000012.11:g.103246300A>C , CM000674.1:g.103246300A>C	GRCh37
NC_000012.10:g.101770430A>C	NCBI36
NG_008690.1:g.70081T>G
NG_008690.2:g.110889T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+293T>G MANE Select	ENSP00000448059.1:n.842+293T>G
ENST00000307000.7:c.827+293T>G	ENSP00000303500.2:n.827+293T>G
ENST00000549247.6:n.601+293T>G
ENST00000553106.5:c.842+293T>G	ENSP00000448059.1:n.842+293T>G
ENST00000635477.1:c.3+293T>G
NM_000277.1:c.842+293T>G	NP_000268.1:n.842+293T>G
XM_011538422.1:c.842+293T>G	XP_011536724.1:n.842+293T>G
NM_000277.2:c.842+293T>G	NP_000268.1:n.842+293T>G
NM_001354304.1:c.842+293T>G	NP_001341233.1:n.842+293T>G
NM_000277.3:c.842+293T>G MANE Select	NP_000268.1:n.842+293T>G
NM_001354304.2:c.842+293T>G	NP_001341233.1:n.842+293T>G