Canonical Allele Identifier: CA229628

Gene: PAH

Linked Data

• ClinVar Variation Id: 102738
• ClinVar RCV Id: RCV000088987 ; RCV000674846
• dbSNP Id: rs199475689
• MyVariant Identifiers: chr12:g.103249057C>T (hg19) ; chr12:g.102855279C>T (hg38)
• ERepo: CA229628/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855279C>T , CM000674.2:g.102855279C>T	GRCh38
NC_000012.11:g.103249057C>T , CM000674.1:g.103249057C>T	GRCh37
NC_000012.10:g.101773187C>T	NCBI36
NG_008690.1:g.67324G>A
NG_008690.2:g.108132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.563G>A MANE Select	ENSP00000448059.1:p.Gly188Asp
ENST00000307000.7:c.548G>A	ENSP00000303500.2:p.Gly183Asp
ENST00000549111.5:n.659G>A
ENST00000551988.5:n.584G>A
ENST00000553106.5:c.563G>A	ENSP00000448059.1:p.Gly188Asp
NM_000277.1:c.563G>A	NP_000268.1:p.Gly188Asp
XM_011538422.1:c.563G>A	XP_011536724.1:p.Gly188Asp
NM_000277.2:c.563G>A	NP_000268.1:p.Gly188Asp
NM_001354304.1:c.563G>A	NP_001341233.1:p.Gly188Asp
XM_017019370.2:c.563G>A	XP_016874859.1:p.Gly188Asp
NM_000277.3:c.563G>A MANE Select	NP_000268.1:p.Gly188Asp
NM_001354304.2:c.563G>A	NP_001341233.1:p.Gly188Asp