Canonical Allele Identifier: CA229497

Gene: PAH

Linked Data

• ClinVar Variation Id: 102637
• ClinVar RCV Id: RCV000088881 ; RCV001192889
• dbSNP Id: rs62509017
• gnomAD v3: 12-102894846-T-G
• gnomAD v4: 12-102894846-T-G
• MyVariant Identifiers: chr12:g.103288624T>G (hg19) ; chr12:g.102894846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894846T>G , CM000674.2:g.102894846T>G	GRCh38
NC_000012.11:g.103288624T>G , CM000674.1:g.103288624T>G	GRCh37
NC_000012.10:g.101812754T>G	NCBI36
NG_008690.1:g.27757A>C
NG_008690.2:g.68565A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.241A>C MANE Select	ENSP00000448059.1:p.Thr81Pro
ENST00000307000.7:c.226A>C	ENSP00000303500.2:p.Thr76Pro
ENST00000546844.1:c.241A>C	ENSP00000446658.1:p.Thr81Pro
ENST00000548677.2:n.328A>C
ENST00000548928.1:n.163A>C
ENST00000549111.5:n.337A>C
ENST00000550978.6:c.225A>C
ENST00000551337.5:c.241A>C	ENSP00000447620.1:p.Thr81Pro
ENST00000551988.5:n.330A>C
ENST00000553106.5:c.241A>C	ENSP00000448059.1:p.Thr81Pro
NM_000277.1:c.241A>C	NP_000268.1:p.Thr81Pro
XM_011538422.1:c.241A>C	XP_011536724.1:p.Thr81Pro
NM_000277.2:c.241A>C	NP_000268.1:p.Thr81Pro
NM_001354304.1:c.241A>C	NP_001341233.1:p.Thr81Pro
XM_017019370.2:c.241A>C	XP_016874859.1:p.Thr81Pro
NM_000277.3:c.241A>C MANE Select	NP_000268.1:p.Thr81Pro
NM_001354304.2:c.241A>C	NP_001341233.1:p.Thr81Pro