Canonical Allele Identifier: CA229578

Gene: PAH

Linked Data

• ClinVar Variation Id: 102699
• ClinVar RCV Id: RCV000088947 ; RCV002514543
• dbSNP Id: rs199475595
• gnomAD v4: 12-102866614-A-G
• MyVariant Identifiers: chr12:g.103260392A>G (hg19) ; chr12:g.102866614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866614A>G , CM000674.2:g.102866614A>G	GRCh38
NC_000012.11:g.103260392A>G , CM000674.1:g.103260392A>G	GRCh37
NC_000012.10:g.101784522A>G	NCBI36
NG_008690.1:g.55989T>C
NG_008690.2:g.96797T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.491T>C MANE Select	ENSP00000448059.1:p.Ile164Thr
ENST00000307000.7:c.476T>C	ENSP00000303500.2:p.Ile159Thr
ENST00000549111.5:n.587T>C
ENST00000551988.5:n.530+10848T>C
ENST00000553106.5:c.491T>C	ENSP00000448059.1:p.Ile164Thr
NM_000277.1:c.491T>C	NP_000268.1:p.Ile164Thr
XM_011538422.1:c.491T>C	XP_011536724.1:p.Ile164Thr
NM_000277.2:c.491T>C	NP_000268.1:p.Ile164Thr
NM_001354304.1:c.491T>C	NP_001341233.1:p.Ile164Thr
XM_017019370.2:c.491T>C	XP_016874859.1:p.Ile164Thr
NM_000277.3:c.491T>C MANE Select	NP_000268.1:p.Ile164Thr
NM_001354304.2:c.491T>C	NP_001341233.1:p.Ile164Thr