Canonical Allele Identifier: CA386304179

Gene: PAH

Linked Data

• ClinVar Variation Id: 987769
• ClinVar RCV Id: RCV001269068 ; RCV004526825 ; RCV004545164
• dbSNP Id: rs767453024
• MyVariant Identifiers: chr12:g.103288642C>G (hg19) ; chr12:g.102894864C>G (hg38)
• ERepo: CA386304179/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894864C>G , CM000674.2:g.102894864C>G	GRCh38
NC_000012.11:g.103288642C>G , CM000674.1:g.103288642C>G	GRCh37
NC_000012.10:g.101812772C>G	NCBI36
NG_008690.1:g.27739G>C
NG_008690.2:g.68547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.223G>C MANE Select	ENSP00000448059.1:p.Asp75His
ENST00000307000.7:c.208G>C	ENSP00000303500.2:p.Asp70His
ENST00000546844.1:c.223G>C	ENSP00000446658.1:p.Asp75His
ENST00000548677.2:n.310G>C
ENST00000548928.1:n.145G>C
ENST00000549111.5:n.319G>C
ENST00000550978.6:c.207G>C
ENST00000551337.5:c.223G>C	ENSP00000447620.1:p.Asp75His
ENST00000551988.5:n.312G>C
ENST00000553106.5:c.223G>C	ENSP00000448059.1:p.Asp75His
NM_000277.1:c.223G>C	NP_000268.1:p.Asp75His
XM_011538422.1:c.223G>C	XP_011536724.1:p.Asp75His
NM_000277.2:c.223G>C	NP_000268.1:p.Asp75His
NM_001354304.1:c.223G>C	NP_001341233.1:p.Asp75His
XM_017019370.2:c.223G>C	XP_016874859.1:p.Asp75His
NM_000277.3:c.223G>C MANE Select	NP_000268.1:p.Asp75His
NM_001354304.2:c.223G>C	NP_001341233.1:p.Asp75His