Canonical Allele Identifier: CA242743437

Gene: PAH

Linked Data

• ClinVar Variation Id: 1518834
• ClinVar RCV Id: RCV002024160
• dbSNP Id: rs767075719
• gnomAD v4: 12-102840456-C-G
• MyVariant Identifiers: chr12:g.103234234C>G (hg19) ; chr12:g.102840456C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1259G>C MANE Select	ENSP00000448059.1:p.Arg420Thr
ENST00000307000.7:c.1244G>C	ENSP00000303500.2:p.Arg415Thr
ENST00000551114.2:n.921G>C
ENST00000553106.5:c.1259G>C	ENSP00000448059.1:p.Arg420Thr
ENST00000635477.1:c.363G>C
ENST00000635528.1:n.774G>C
NM_000277.1:c.1259G>C	NP_000268.1:p.Arg420Thr
XM_011538422.1:c.1202G>C	XP_011536724.1:p.Arg401Thr
NM_000277.2:c.1259G>C	NP_000268.1:p.Arg420Thr
NM_001354304.1:c.1259G>C	NP_001341233.1:p.Arg420Thr
NM_000277.3:c.1259G>C MANE Select	NP_000268.1:p.Arg420Thr
NM_001354304.2:c.1259G>C	NP_001341233.1:p.Arg420Thr