Canonical Allele Identifier: CA229511

Gene: PAH

Linked Data

• ClinVar Variation Id: 102648
• ClinVar RCV Id: RCV000088894 ; RCV001580454
• dbSNP Id: rs62508591
• gnomAD v4: 12-102894782-A-G
• MyVariant Identifiers: chr12:g.103288560A>G (hg19) ; chr12:g.102894782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894782A>G , CM000674.2:g.102894782A>G	GRCh38
NC_000012.11:g.103288560A>G , CM000674.1:g.103288560A>G	GRCh37
NC_000012.10:g.101812690A>G	NCBI36
NG_008690.1:g.27821T>C
NG_008690.2:g.68629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.305T>C MANE Select	ENSP00000448059.1:p.Ile102Thr
ENST00000307000.7:c.290T>C	ENSP00000303500.2:p.Ile97Thr
ENST00000546844.1:c.305T>C	ENSP00000446658.1:p.Ile102Thr
ENST00000548928.1:n.227T>C
ENST00000549111.5:n.401T>C
ENST00000550978.6:c.289T>C
ENST00000551337.5:c.305T>C	ENSP00000447620.1:p.Ile102Thr
ENST00000551988.5:n.394T>C
ENST00000553106.5:c.305T>C	ENSP00000448059.1:p.Ile102Thr
NM_000277.1:c.305T>C	NP_000268.1:p.Ile102Thr
XM_011538422.1:c.305T>C	XP_011536724.1:p.Ile102Thr
NM_000277.2:c.305T>C	NP_000268.1:p.Ile102Thr
NM_001354304.1:c.305T>C	NP_001341233.1:p.Ile102Thr
XM_017019370.2:c.305T>C	XP_016874859.1:p.Ile102Thr
NM_000277.3:c.305T>C MANE Select	NP_000268.1:p.Ile102Thr
NM_001354304.2:c.305T>C	NP_001341233.1:p.Ile102Thr