Canonical Allele Identifier: CA6748705

Gene: PAH

Linked Data

• ClinVar Variation Id: 552488
• ClinVar RCV Id: RCV000667759
• dbSNP Id: rs752255985
• ExAC: 12:103234237 T / C
• gnomAD v2: 12-103234237-T-C
• gnomAD v3: 12-102840459-T-C
• gnomAD v4: 12-102840459-T-C
• MyVariant Identifiers: chr12:g.103234237T>C (hg19) ; chr12:g.102840459T>C (hg38)
• ERepo: CA6748705/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840459T>C , CM000674.2:g.102840459T>C	GRCh38
NC_000012.11:g.103234237T>C , CM000674.1:g.103234237T>C	GRCh37
NC_000012.10:g.101758367T>C	NCBI36
NG_008690.1:g.82144A>G
NG_008690.2:g.122952A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1256A>G MANE Select	ENSP00000448059.1:p.Gln419Arg
ENST00000307000.7:c.1241A>G	ENSP00000303500.2:p.Gln414Arg
ENST00000551114.2:n.918A>G
ENST00000553106.5:c.1256A>G	ENSP00000448059.1:p.Gln419Arg
ENST00000635477.1:c.360A>G
ENST00000635528.1:n.771A>G
NM_000277.1:c.1256A>G	NP_000268.1:p.Gln419Arg
XM_011538422.1:c.1199A>G	XP_011536724.1:p.Gln400Arg
NM_000277.2:c.1256A>G	NP_000268.1:p.Gln419Arg
NM_001354304.1:c.1256A>G	NP_001341233.1:p.Gln419Arg
NM_000277.3:c.1256A>G MANE Select	NP_000268.1:p.Gln419Arg
NM_001354304.2:c.1256A>G	NP_001341233.1:p.Gln419Arg