Canonical Allele Identifier: CA229386

Gene: PAH

Linked Data

• ClinVar Variation Id: 102558
• ClinVar RCV Id: RCV000088792 ; RCV002513932
• dbSNP Id: rs62509018
• MyVariant Identifiers: chr12:g.103237404C>G (hg19) ; chr12:g.102843626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843626C>G , CM000674.2:g.102843626C>G	GRCh38
NC_000012.11:g.103237404C>G , CM000674.1:g.103237404C>G	GRCh37
NC_000012.10:g.101761534C>G	NCBI36
NG_008690.1:g.78977G>C
NG_008690.2:g.119785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1199+20G>C MANE Select	ENSP00000448059.1:n.1199+20G>C
ENST00000307000.7:c.1184+20G>C	ENSP00000303500.2:n.1184+20G>C
ENST00000549247.6:n.958+20G>C
ENST00000551114.2:n.861+20G>C
ENST00000553106.5:c.1199+20G>C	ENSP00000448059.1:n.1199+20G>C
ENST00000635477.1:c.303+20G>C
ENST00000635528.1:n.714+20G>C
NM_000277.1:c.1199+20G>C	NP_000268.1:n.1199+20G>C
XM_011538422.1:c.1142+20G>C	XP_011536724.1:n.1142+20G>C
NM_000277.2:c.1199+20G>C	NP_000268.1:n.1199+20G>C
NM_001354304.1:c.1199+20G>C	NP_001341233.1:n.1199+20G>C
NM_000277.3:c.1199+20G>C MANE Select	NP_000268.1:n.1199+20G>C
NM_001354304.2:c.1199+20G>C	NP_001341233.1:n.1199+20G>C