Canonical Allele Identifier: CA6748704

Gene: PAH

Linked Data

• ClinVar Variation Id: 932268
• ClinVar RCV Id: RCV001200002
• dbSNP Id: rs767075719
• ExAC: 12:103234234 C / A
• gnomAD v2: 12-103234234-C-A
• gnomAD v3: 12-102840456-C-A
• gnomAD v4: 12-102840456-C-A
• MyVariant Identifiers: chr12:g.103234234C>A (hg19) ; chr12:g.102840456C>A (hg38)
• ERepo: CA6748704/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840456C>A , CM000674.2:g.102840456C>A	GRCh38
NC_000012.11:g.103234234C>A , CM000674.1:g.103234234C>A	GRCh37
NC_000012.10:g.101758364C>A	NCBI36
NG_008690.1:g.82147G>T
NG_008690.2:g.122955G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1259G>T MANE Select	ENSP00000448059.1:p.Arg420Met
ENST00000307000.7:c.1244G>T	ENSP00000303500.2:p.Arg415Met
ENST00000551114.2:n.921G>T
ENST00000553106.5:c.1259G>T	ENSP00000448059.1:p.Arg420Met
ENST00000635477.1:c.363G>T
ENST00000635528.1:n.774G>T
NM_000277.1:c.1259G>T	NP_000268.1:p.Arg420Met
XM_011538422.1:c.1202G>T	XP_011536724.1:p.Arg401Met
NM_000277.2:c.1259G>T	NP_000268.1:p.Arg420Met
NM_001354304.1:c.1259G>T	NP_001341233.1:p.Arg420Met
NM_000277.3:c.1259G>T MANE Select	NP_000268.1:p.Arg420Met
NM_001354304.2:c.1259G>T	NP_001341233.1:p.Arg420Met