Canonical Allele Identifier: CA229373

Gene: PAH

Linked Data

• ClinVar Variation Id: 102547
• ClinVar RCV Id: RCV000088781 ; RCV000781679
• dbSNP Id: rs62516103
• ExAC: 12:103237440 C / G
• gnomAD v2: 12-103237440-C-G
• gnomAD v3: 12-102843662-C-G
• gnomAD v4: 12-102843662-C-G
• MyVariant Identifiers: chr12:g.103237440C>G (hg19) ; chr12:g.102843662C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843662C>G , CM000674.2:g.102843662C>G	GRCh38
NC_000012.11:g.103237440C>G , CM000674.1:g.103237440C>G	GRCh37
NC_000012.10:g.101761570C>G	NCBI36
NG_008690.1:g.78941G>C
NG_008690.2:g.119749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1183G>C MANE Select	ENSP00000448059.1:p.Ala395Pro
ENST00000307000.7:c.1168G>C	ENSP00000303500.2:p.Ala390Pro
ENST00000549247.6:n.942G>C
ENST00000551114.2:n.845G>C
ENST00000553106.5:c.1183G>C	ENSP00000448059.1:p.Ala395Pro
ENST00000635477.1:c.287G>C
ENST00000635528.1:n.698G>C
NM_000277.1:c.1183G>C	NP_000268.1:p.Ala395Pro
XM_011538422.1:c.1126G>C	XP_011536724.1:p.Ala376Pro
NM_000277.2:c.1183G>C	NP_000268.1:p.Ala395Pro
NM_001354304.1:c.1183G>C	NP_001341233.1:p.Ala395Pro
NM_000277.3:c.1183G>C MANE Select	NP_000268.1:p.Ala395Pro
NM_001354304.2:c.1183G>C	NP_001341233.1:p.Ala395Pro