Canonical Allele Identifier: CA16020980

Gene: PAH

Linked Data

• ClinVar Variation Id: 987913
• ClinVar RCV Id: RCV001269322
• dbSNP Id: rs1874541064
• MyVariant Identifiers: chr12:g.103234247G>T (hg19) ; chr12:g.102840469G>T (hg38)
• ERepo: CA16020980/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840469G>T , CM000674.2:g.102840469G>T	GRCh38
NC_000012.11:g.103234247G>T , CM000674.1:g.103234247G>T	GRCh37
NC_000012.10:g.101758377G>T	NCBI36
NG_008690.1:g.82134C>A
NG_008690.2:g.122942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1246C>A MANE Select	ENSP00000448059.1:p.Pro416Thr
ENST00000307000.7:c.1231C>A	ENSP00000303500.2:p.Pro411Thr
ENST00000551114.2:n.908C>A
ENST00000553106.5:c.1246C>A	ENSP00000448059.1:p.Pro416Thr
ENST00000635477.1:c.350C>A
ENST00000635528.1:n.761C>A
NM_000277.1:c.1246C>A	NP_000268.1:p.Pro416Thr
XM_011538422.1:c.1189C>A	XP_011536724.1:p.Pro397Thr
NM_000277.2:c.1246C>A	NP_000268.1:p.Pro416Thr
NM_001354304.1:c.1246C>A	NP_001341233.1:p.Pro416Thr
NM_000277.3:c.1246C>A MANE Select	NP_000268.1:p.Pro416Thr
NM_001354304.2:c.1246C>A	NP_001341233.1:p.Pro416Thr