Canonical Allele Identifier: CA229771

Gene: PAH

Linked Data

• ClinVar Variation Id: 102840
• ClinVar RCV Id: RCV000089099 ; RCV000758096
• dbSNP Id: rs199475675
• MyVariant Identifiers: chr12:g.103246634C>G (hg19) ; chr12:g.102852856C>G (hg38)
• ERepo: CA229771/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852856C>G , CM000674.2:g.102852856C>G	GRCh38
NC_000012.11:g.103246634C>G , CM000674.1:g.103246634C>G	GRCh37
NC_000012.10:g.101770764C>G	NCBI36
NG_008690.1:g.69747G>C
NG_008690.2:g.110555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.801G>C MANE Select	ENSP00000448059.1:p.Gln267His
ENST00000307000.7:c.786G>C	ENSP00000303500.2:p.Gln262His
ENST00000549247.6:n.560G>C
ENST00000553106.5:c.801G>C	ENSP00000448059.1:p.Gln267His
NM_000277.1:c.801G>C	NP_000268.1:p.Gln267His
XM_011538422.1:c.801G>C	XP_011536724.1:p.Gln267His
NM_000277.2:c.801G>C	NP_000268.1:p.Gln267His
NM_001354304.1:c.801G>C	NP_001341233.1:p.Gln267His
NM_000277.3:c.801G>C MANE Select	NP_000268.1:p.Gln267His
NM_001354304.2:c.801G>C	NP_001341233.1:p.Gln267His