Canonical Allele Identifier: CA229647

Gene: PAH

Linked Data

• ClinVar Variation Id: 102755
• ClinVar RCV Id: RCV000089004 ; RCV001543658
• dbSNP Id: rs1801147
• MyVariant Identifiers: chr12:g.103249011G>C (hg19) ; chr12:g.102855233G>C (hg38)
• ERepo: CA229647/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855233G>C , CM000674.2:g.102855233G>C	GRCh38
NC_000012.11:g.103249011G>C , CM000674.1:g.103249011G>C	GRCh37
NC_000012.10:g.101773141G>C	NCBI36
NG_008690.1:g.67370C>G
NG_008690.2:g.108178C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.609C>G MANE Select	ENSP00000448059.1:p.Cys203Trp
ENST00000307000.7:c.594C>G	ENSP00000303500.2:p.Cys198Trp
ENST00000549111.5:n.705C>G
ENST00000553106.5:c.609C>G	ENSP00000448059.1:p.Cys203Trp
NM_000277.1:c.609C>G	NP_000268.1:p.Cys203Trp
XM_011538422.1:c.609C>G	XP_011536724.1:p.Cys203Trp
NM_000277.2:c.609C>G	NP_000268.1:p.Cys203Trp
NM_001354304.1:c.609C>G	NP_001341233.1:p.Cys203Trp
XM_017019370.2:c.609C>G	XP_016874859.1:p.Cys203Trp
NM_000277.3:c.609C>G MANE Select	NP_000268.1:p.Cys203Trp
NM_001354304.2:c.609C>G	NP_001341233.1:p.Cys203Trp