Canonical Allele Identifier: CA386295811

Gene: PAH

Linked Data

• gnomAD v4: 12-102852932-A-T
• MyVariant Identifiers: chr12:g.103246710A>T (hg19) ; chr12:g.102852932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852932A>T , CM000674.2:g.102852932A>T	GRCh38
NC_000012.11:g.103246710A>T , CM000674.1:g.103246710A>T	GRCh37
NC_000012.10:g.101770840A>T	NCBI36
NG_008690.1:g.69671T>A
NG_008690.2:g.110479T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.725T>A MANE Select	ENSP00000448059.1:p.Leu242His
ENST00000307000.7:c.710T>A	ENSP00000303500.2:p.Leu237His
ENST00000549247.6:n.484T>A
ENST00000553106.5:c.725T>A	ENSP00000448059.1:p.Leu242His
NM_000277.1:c.725T>A	NP_000268.1:p.Leu242His
XM_011538422.1:c.725T>A	XP_011536724.1:p.Leu242His
NM_000277.2:c.725T>A	NP_000268.1:p.Leu242His
NM_001354304.1:c.725T>A	NP_001341233.1:p.Leu242His
NM_000277.3:c.725T>A MANE Select	NP_000268.1:p.Leu242His
NM_001354304.2:c.725T>A	NP_001341233.1:p.Leu242His