Canonical Allele Identifier: CA229406

Gene: PAH

Linked Data

• ClinVar Variation Id: 102572
• ClinVar RCV Id: RCV000088808 ; RCV001269318
• dbSNP Id: rs62644475
• MyVariant Identifiers: chr12:g.103234264A>C (hg19) ; chr12:g.102840486A>C (hg38)
• ERepo: CA229406/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840486A>C , CM000674.2:g.102840486A>C	GRCh38
NC_000012.11:g.103234264A>C , CM000674.1:g.103234264A>C	GRCh37
NC_000012.10:g.101758394A>C	NCBI36
NG_008690.1:g.82117T>G
NG_008690.2:g.122925T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1229T>G MANE Select	ENSP00000448059.1:p.Phe410Cys
ENST00000307000.7:c.1214T>G	ENSP00000303500.2:p.Phe405Cys
ENST00000551114.2:n.891T>G
ENST00000553106.5:c.1229T>G	ENSP00000448059.1:p.Phe410Cys
ENST00000635477.1:c.333T>G
ENST00000635528.1:n.744T>G
NM_000277.1:c.1229T>G	NP_000268.1:p.Phe410Cys
XM_011538422.1:c.1172T>G	XP_011536724.1:p.Phe391Cys
NM_000277.2:c.1229T>G	NP_000268.1:p.Phe410Cys
NM_001354304.1:c.1229T>G	NP_001341233.1:p.Phe410Cys
NM_000277.3:c.1229T>G MANE Select	NP_000268.1:p.Phe410Cys
NM_001354304.2:c.1229T>G	NP_001341233.1:p.Phe410Cys