Canonical Allele Identifier: CA229534

Gene: PAH

Linked Data

• ClinVar Variation Id: 102664
• ClinVar RCV Id: RCV000088912 ; RCV000169559
• dbSNP Id: rs199475680
• MyVariant Identifiers: chr12:g.103271281G>A (hg19) ; chr12:g.102877503G>A (hg38)
• ERepo: CA229534/MONDO:0009861/006
• PubMed: PMID:17096675

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877503G>A , CM000674.2:g.102877503G>A	GRCh38
NC_000012.11:g.103271281G>A , CM000674.1:g.103271281G>A	GRCh37
NC_000012.10:g.101795411G>A	NCBI36
NG_008690.1:g.45100C>T
NG_008690.2:g.85908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.400C>T MANE Select	ENSP00000448059.1:p.Gln134Ter
ENST00000307000.7:c.385C>T	ENSP00000303500.2:p.Gln129Ter
ENST00000549111.5:n.496C>T
ENST00000550978.6:c.384C>T
ENST00000551337.5:c.400C>T	ENSP00000447620.1:p.Gln134Ter
ENST00000551988.5:n.489C>T
ENST00000553106.5:c.400C>T	ENSP00000448059.1:p.Gln134Ter
NM_000277.1:c.400C>T	NP_000268.1:p.Gln134Ter
XM_011538422.1:c.400C>T	XP_011536724.1:p.Gln134Ter
NM_000277.2:c.400C>T	NP_000268.1:p.Gln134Ter
NM_001354304.1:c.400C>T	NP_001341233.1:p.Gln134Ter
XM_017019370.2:c.400C>T	XP_016874859.1:p.Gln134Ter
NM_000277.3:c.400C>T MANE Select	NP_000268.1:p.Gln134Ter
NM_001354304.2:c.400C>T	NP_001341233.1:p.Gln134Ter