Canonical Allele Identifier: CA229419

Gene: PAH

Linked Data

• ClinVar Variation Id: 102581
• ClinVar RCV Id: RCV000088819 ; RCV000993605
• dbSNP Id: rs62635346
• COSMIC: COSM5898448
• MyVariant Identifiers: chr12:g.103306612T>A (hg19) ; chr12:g.102912834T>A (hg38)
• ERepo: CA229419/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912834T>A , CM000674.2:g.102912834T>A	GRCh38
NC_000012.11:g.103306612T>A , CM000674.1:g.103306612T>A	GRCh37
NC_000012.10:g.101830742T>A	NCBI36
NG_008690.1:g.9769A>T
NG_008690.2:g.50577A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.125A>T MANE Select	ENSP00000448059.1:p.Lys42Ile
ENST00000307000.7:c.110A>T	ENSP00000303500.2:p.Lys37Ile
ENST00000546844.1:c.125A>T	ENSP00000446658.1:p.Lys42Ile
ENST00000548677.2:n.212A>T
ENST00000548928.1:n.47A>T
ENST00000549111.5:n.221A>T
ENST00000550978.6:c.109A>T
ENST00000551337.5:c.125A>T	ENSP00000447620.1:p.Lys42Ile
ENST00000551988.5:n.214A>T
ENST00000553106.5:c.125A>T	ENSP00000448059.1:p.Lys42Ile
ENST00000635500.1:n.93A>T
NM_000277.1:c.125A>T	NP_000268.1:p.Lys42Ile
XM_011538422.1:c.125A>T	XP_011536724.1:p.Lys42Ile
NM_000277.2:c.125A>T	NP_000268.1:p.Lys42Ile
NM_001354304.1:c.125A>T	NP_001341233.1:p.Lys42Ile
XM_017019370.2:c.125A>T	XP_016874859.1:p.Lys42Ile
NM_000277.3:c.125A>T MANE Select	NP_000268.1:p.Lys42Ile
NM_001354304.2:c.125A>T	NP_001341233.1:p.Lys42Ile