Canonical Allele Identifier: CA229681

Gene: PAH

Linked Data

• ClinVar Variation Id: 102776
• ClinVar RCV Id: RCV000089027 ; RCV001789760
• dbSNP Id: rs62507319
• gnomAD v4: 12-102855177-T-A
• MyVariant Identifiers: chr12:g.103248955T>A (hg19) ; chr12:g.102855177T>A (hg38)
• ERepo: CA229681/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855177T>A , CM000674.2:g.102855177T>A	GRCh38
NC_000012.11:g.103248955T>A , CM000674.1:g.103248955T>A	GRCh37
NC_000012.10:g.101773085T>A	NCBI36
NG_008690.1:g.67426A>T
NG_008690.2:g.108234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.665A>T MANE Select	ENSP00000448059.1:p.Asp222Val
ENST00000307000.7:c.650A>T	ENSP00000303500.2:p.Asp217Val
ENST00000549111.5:n.761A>T
ENST00000553106.5:c.665A>T	ENSP00000448059.1:p.Asp222Val
NM_000277.1:c.665A>T	NP_000268.1:p.Asp222Val
XM_011538422.1:c.665A>T	XP_011536724.1:p.Asp222Val
NM_000277.2:c.665A>T	NP_000268.1:p.Asp222Val
NM_001354304.1:c.665A>T	NP_001341233.1:p.Asp222Val
XM_017019370.2:c.665A>T	XP_016874859.1:p.Asp222Val
NM_000277.3:c.665A>T MANE Select	NP_000268.1:p.Asp222Val
NM_001354304.2:c.665A>T	NP_001341233.1:p.Asp222Val