Canonical Allele Identifier: CA16020945

Gene: PAH

Linked Data

• ClinVar Variation Id: 932257
• ClinVar RCV Id: RCV001199982
• dbSNP Id: rs1874694173
• gnomAD v3: 12-102843721-T-C
• gnomAD v4: 12-102843721-T-C
• MyVariant Identifiers: chr12:g.103237499T>C (hg19) ; chr12:g.102843721T>C (hg38)
• ERepo: CA16020945/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843721T>C , CM000674.2:g.102843721T>C	GRCh38
NC_000012.11:g.103237499T>C , CM000674.1:g.103237499T>C	GRCh37
NC_000012.10:g.101761629T>C	NCBI36
NG_008690.1:g.78882A>G
NG_008690.2:g.119690A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1124A>G MANE Select	ENSP00000448059.1:p.Gln375Arg
ENST00000307000.7:c.1109A>G	ENSP00000303500.2:p.Gln370Arg
ENST00000549247.6:n.883A>G
ENST00000551114.2:n.786A>G
ENST00000553106.5:c.1124A>G	ENSP00000448059.1:p.Gln375Arg
ENST00000635477.1:c.228A>G
ENST00000635528.1:n.639A>G
NM_000277.1:c.1124A>G	NP_000268.1:p.Gln375Arg
XM_011538422.1:c.1067A>G	XP_011536724.1:p.Gln356Arg
NM_000277.2:c.1124A>G	NP_000268.1:p.Gln375Arg
NM_001354304.1:c.1124A>G	NP_001341233.1:p.Gln375Arg
NM_000277.3:c.1124A>G MANE Select	NP_000268.1:p.Gln375Arg
NM_001354304.2:c.1124A>G	NP_001341233.1:p.Gln375Arg