Canonical Allele Identifier: CA229268

Gene: PAH

Linked Data

• ClinVar Variation Id: 102467
• ClinVar RCV Id: RCV000088698 ; RCV001543648
• dbSNP Id: rs62517206
• MyVariant Identifiers: chr12:g.103238169C>A (hg19) ; chr12:g.102844391C>A (hg38)
• ERepo: CA229268/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844391C>A , CM000674.2:g.102844391C>A	GRCh38
NC_000012.11:g.103238169C>A , CM000674.1:g.103238169C>A	GRCh37
NC_000012.10:g.101762299C>A	NCBI36
NG_008690.1:g.78212G>T
NG_008690.2:g.119020G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1010G>T MANE Select	ENSP00000448059.1:p.Gly337Val
ENST00000307000.7:c.995G>T	ENSP00000303500.2:p.Gly332Val
ENST00000549247.6:n.769G>T
ENST00000551114.2:n.672G>T
ENST00000553106.5:c.1010G>T	ENSP00000448059.1:p.Gly337Val
ENST00000635477.1:c.114G>T
ENST00000635528.1:n.525G>T
NM_000277.1:c.1010G>T	NP_000268.1:p.Gly337Val
XM_011538422.1:c.953G>T	XP_011536724.1:p.Gly318Val
NM_000277.2:c.1010G>T	NP_000268.1:p.Gly337Val
NM_001354304.1:c.1010G>T	NP_001341233.1:p.Gly337Val
NM_000277.3:c.1010G>T MANE Select	NP_000268.1:p.Gly337Val
NM_001354304.2:c.1010G>T	NP_001341233.1:p.Gly337Val