Canonical Allele Identifier: CA229361

Gene: PAH

Linked Data

• ClinVar Variation Id: 102537
• ClinVar RCV Id: RCV000088770 ; RCV001239036
• dbSNP Id: rs199475691
• gnomAD v4: 12-102843689-A-C
• MyVariant Identifiers: chr12:g.103237467A>C (hg19) ; chr12:g.102843689A>C (hg38)
• ERepo: CA229361/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843689A>C , CM000674.2:g.102843689A>C	GRCh38
NC_000012.11:g.103237467A>C , CM000674.1:g.103237467A>C	GRCh37
NC_000012.10:g.101761597A>C	NCBI36
NG_008690.1:g.78914T>G
NG_008690.2:g.119722T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1156T>G MANE Select	ENSP00000448059.1:p.Tyr386Asp
ENST00000307000.7:c.1141T>G	ENSP00000303500.2:p.Tyr381Asp
ENST00000549247.6:n.915T>G
ENST00000551114.2:n.818T>G
ENST00000553106.5:c.1156T>G	ENSP00000448059.1:p.Tyr386Asp
ENST00000635477.1:c.260T>G
ENST00000635528.1:n.671T>G
NM_000277.1:c.1156T>G	NP_000268.1:p.Tyr386Asp
XM_011538422.1:c.1099T>G	XP_011536724.1:p.Tyr367Asp
NM_000277.2:c.1156T>G	NP_000268.1:p.Tyr386Asp
NM_001354304.1:c.1156T>G	NP_001341233.1:p.Tyr386Asp
NM_000277.3:c.1156T>G MANE Select	NP_000268.1:p.Tyr386Asp
NM_001354304.2:c.1156T>G	NP_001341233.1:p.Tyr386Asp