Canonical Allele Identifier: CA386304125

Gene: PAH

Linked Data

• ClinVar Variation Id: 2829441
• ClinVar RCV Id: RCV003599346
• gnomAD v4: 12-102894837-C-T
• MyVariant Identifiers: chr12:g.103288615C>T (hg19) ; chr12:g.102894837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894837C>T , CM000674.2:g.102894837C>T	GRCh38
NC_000012.11:g.103288615C>T , CM000674.1:g.103288615C>T	GRCh37
NC_000012.10:g.101812745C>T	NCBI36
NG_008690.1:g.27766G>A
NG_008690.2:g.68574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.250G>A MANE Select	ENSP00000448059.1:p.Asp84Asn
ENST00000307000.7:c.235G>A	ENSP00000303500.2:p.Asp79Asn
ENST00000546844.1:c.250G>A	ENSP00000446658.1:p.Asp84Asn
ENST00000548677.2:n.337G>A
ENST00000548928.1:n.172G>A
ENST00000549111.5:n.346G>A
ENST00000550978.6:c.234G>A
ENST00000551337.5:c.250G>A	ENSP00000447620.1:p.Asp84Asn
ENST00000551988.5:n.339G>A
ENST00000553106.5:c.250G>A	ENSP00000448059.1:p.Asp84Asn
NM_000277.1:c.250G>A	NP_000268.1:p.Asp84Asn
XM_011538422.1:c.250G>A	XP_011536724.1:p.Asp84Asn
NM_000277.2:c.250G>A	NP_000268.1:p.Asp84Asn
NM_001354304.1:c.250G>A	NP_001341233.1:p.Asp84Asn
XM_017019370.2:c.250G>A	XP_016874859.1:p.Asp84Asn
NM_000277.3:c.250G>A MANE Select	NP_000268.1:p.Asp84Asn
NM_001354304.2:c.250G>A	NP_001341233.1:p.Asp84Asn