Canonical Allele Identifier: CA229524

Gene: PAH

Linked Data

• ClinVar Variation Id: 102657
• ClinVar RCV Id: RCV000088904 ; RCV001384288
• dbSNP Id: rs199475622
• MyVariant Identifiers: chr12:g.103271316G>T (hg19) ; chr12:g.102877538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877538G>T , CM000674.2:g.102877538G>T	GRCh38
NC_000012.11:g.103271316G>T , CM000674.1:g.103271316G>T	GRCh37
NC_000012.10:g.101795446G>T	NCBI36
NG_008690.1:g.45065C>A
NG_008690.2:g.85873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.365C>A MANE Select	ENSP00000448059.1:p.Pro122Gln
ENST00000307000.7:c.350C>A	ENSP00000303500.2:p.Pro117Gln
ENST00000549111.5:n.461C>A
ENST00000550978.6:c.349C>A
ENST00000551337.5:c.365C>A	ENSP00000447620.1:p.Pro122Gln
ENST00000551988.5:n.454C>A
ENST00000553106.5:c.365C>A	ENSP00000448059.1:p.Pro122Gln
NM_000277.1:c.365C>A	NP_000268.1:p.Pro122Gln
XM_011538422.1:c.365C>A	XP_011536724.1:p.Pro122Gln
NM_000277.2:c.365C>A	NP_000268.1:p.Pro122Gln
NM_001354304.1:c.365C>A	NP_001341233.1:p.Pro122Gln
XM_017019370.2:c.365C>A	XP_016874859.1:p.Pro122Gln
NM_000277.3:c.365C>A MANE Select	NP_000268.1:p.Pro122Gln
NM_001354304.2:c.365C>A	NP_001341233.1:p.Pro122Gln