Canonical Allele Identifier: CA229789

Gene: PAH

Linked Data

• ClinVar Variation Id: 102853
• ClinVar RCV Id: RCV000089114 ; RCV000672603
• dbSNP Id: rs62508691
• MyVariant Identifiers: chr12:g.103246612G>A (hg19) ; chr12:g.102852834G>A (hg38)
• ERepo: CA229789/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852834G>A , CM000674.2:g.102852834G>A	GRCh38
NC_000012.11:g.103246612G>A , CM000674.1:g.103246612G>A	GRCh37
NC_000012.10:g.101770742G>A	NCBI36
NG_008690.1:g.69769C>T
NG_008690.2:g.110577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.823C>T MANE Select	ENSP00000448059.1:p.Pro275Ser
ENST00000307000.7:c.808C>T	ENSP00000303500.2:p.Pro270Ser
ENST00000549247.6:n.582C>T
ENST00000553106.5:c.823C>T	ENSP00000448059.1:p.Pro275Ser
NM_000277.1:c.823C>T	NP_000268.1:p.Pro275Ser
XM_011538422.1:c.823C>T	XP_011536724.1:p.Pro275Ser
NM_000277.2:c.823C>T	NP_000268.1:p.Pro275Ser
NM_001354304.1:c.823C>T	NP_001341233.1:p.Pro275Ser
NM_000277.3:c.823C>T MANE Select	NP_000268.1:p.Pro275Ser
NM_001354304.2:c.823C>T	NP_001341233.1:p.Pro275Ser