Canonical Allele Identifier: CA229302

Gene: PAH

Linked Data

• ClinVar Variation Id: 102492
• ClinVar RCV Id: RCV000088723 ; RCV001040702
• dbSNP Id: rs62507279
• MyVariant Identifiers: chr12:g.103238133G>A (hg19) ; chr12:g.102844355G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844355G>A , CM000674.2:g.102844355G>A	GRCh38
NC_000012.11:g.103238133G>A , CM000674.1:g.103238133G>A	GRCh37
NC_000012.10:g.101762263G>A	NCBI36
NG_008690.1:g.78248C>T
NG_008690.2:g.119056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1046C>T MANE Select	ENSP00000448059.1:p.Ser349Leu
ENST00000307000.7:c.1031C>T	ENSP00000303500.2:p.Ser344Leu
ENST00000549247.6:n.805C>T
ENST00000551114.2:n.708C>T
ENST00000553106.5:c.1046C>T	ENSP00000448059.1:p.Ser349Leu
ENST00000635477.1:c.150C>T
ENST00000635528.1:n.561C>T
NM_000277.1:c.1046C>T	NP_000268.1:p.Ser349Leu
XM_011538422.1:c.989C>T	XP_011536724.1:p.Ser330Leu
NM_000277.2:c.1046C>T	NP_000268.1:p.Ser349Leu
NM_001354304.1:c.1046C>T	NP_001341233.1:p.Ser349Leu
NM_000277.3:c.1046C>T MANE Select	NP_000268.1:p.Ser349Leu
NM_001354304.2:c.1046C>T	NP_001341233.1:p.Ser349Leu