Canonical Allele Identifier: CA386303850

Gene: PAH

Linked Data

• ClinVar Variation Id: 625287
• ClinVar RCV Id: RCV000850222
• dbSNP Id: rs1346707834
• gnomAD v4: 12-102917099-A-T
• MyVariant Identifiers: chr12:g.103310877A>T (hg19) ; chr12:g.102917099A>T (hg38)
• ERepo: CA386303850/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917099A>T , CM000674.2:g.102917099A>T	GRCh38
NC_000012.11:g.103310877A>T , CM000674.1:g.103310877A>T	GRCh37
NC_000012.10:g.101835007A>T	NCBI36
NG_008690.1:g.5504T>A
NG_008690.2:g.46312T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.32T>A MANE Select	ENSP00000448059.1:p.Leu11Ter
ENST00000307000.7:c.-116T>A	ENSP00000303500.2:n.-116T>A
ENST00000546844.1:c.32T>A	ENSP00000446658.1:p.Leu11Ter
ENST00000547319.1:n.343T>A
ENST00000549111.5:n.128T>A
ENST00000550978.6:c.16T>A
ENST00000551337.5:c.32T>A	ENSP00000447620.1:p.Leu11Ter
ENST00000551988.5:n.121T>A
ENST00000553106.5:c.32T>A	ENSP00000448059.1:p.Leu11Ter
ENST00000635500.1:n.29-4201T>A
NM_000277.1:c.32T>A	NP_000268.1:p.Leu11Ter
XM_011538422.1:c.32T>A	XP_011536724.1:p.Leu11Ter
NM_000277.2:c.32T>A	NP_000268.1:p.Leu11Ter
NM_001354304.1:c.32T>A	NP_001341233.1:p.Leu11Ter
XM_017019370.2:c.32T>A	XP_016874859.1:p.Leu11Ter
NM_000277.3:c.32T>A MANE Select	NP_000268.1:p.Leu11Ter
NM_001354304.2:c.32T>A	NP_001341233.1:p.Leu11Ter