Canonical Allele Identifier: CA229656

Gene: PAH

Linked Data

• ClinVar Variation Id: 102759
• ClinVar RCV Id: RCV000089009 ; RCV001071178
• dbSNP Id: rs63083560
• MyVariant Identifiers: chr12:g.103249007C>T (hg19) ; chr12:g.102855229C>T (hg38)
• ERepo: CA229656/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855229C>T , CM000674.2:g.102855229C>T	GRCh38
NC_000012.11:g.103249007C>T , CM000674.1:g.103249007C>T	GRCh37
NC_000012.10:g.101773137C>T	NCBI36
NG_008690.1:g.67374G>A
NG_008690.2:g.108182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.613G>A MANE Select	ENSP00000448059.1:p.Glu205Lys
ENST00000307000.7:c.598G>A	ENSP00000303500.2:p.Glu200Lys
ENST00000549111.5:n.709G>A
ENST00000553106.5:c.613G>A	ENSP00000448059.1:p.Glu205Lys
NM_000277.1:c.613G>A	NP_000268.1:p.Glu205Lys
XM_011538422.1:c.613G>A	XP_011536724.1:p.Glu205Lys
NM_000277.2:c.613G>A	NP_000268.1:p.Glu205Lys
NM_001354304.1:c.613G>A	NP_001341233.1:p.Glu205Lys
XM_017019370.2:c.613G>A	XP_016874859.1:p.Glu205Lys
NM_000277.3:c.613G>A MANE Select	NP_000268.1:p.Glu205Lys
NM_001354304.2:c.613G>A	NP_001341233.1:p.Glu205Lys