Canonical Allele Identifier: CA229732

Gene: PAH

Linked Data

• ClinVar Variation Id: 102816
• ClinVar RCV Id: RCV000089071 ; RCV000668140
• dbSNP Id: rs62508731
• MyVariant Identifiers: chr12:g.103246696C>G (hg19) ; chr12:g.102852918C>G (hg38)
• ERepo: CA229732/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852918C>G , CM000674.2:g.102852918C>G	GRCh38
NC_000012.11:g.103246696C>G , CM000674.1:g.103246696C>G	GRCh37
NC_000012.10:g.101770826C>G	NCBI36
NG_008690.1:g.69685G>C
NG_008690.2:g.110493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.739G>C MANE Select	ENSP00000448059.1:p.Gly247Arg
ENST00000307000.7:c.724G>C	ENSP00000303500.2:p.Gly242Arg
ENST00000549247.6:n.498G>C
ENST00000553106.5:c.739G>C	ENSP00000448059.1:p.Gly247Arg
NM_000277.1:c.739G>C	NP_000268.1:p.Gly247Arg
XM_011538422.1:c.739G>C	XP_011536724.1:p.Gly247Arg
NM_000277.2:c.739G>C	NP_000268.1:p.Gly247Arg
NM_001354304.1:c.739G>C	NP_001341233.1:p.Gly247Arg
NM_000277.3:c.739G>C MANE Select	NP_000268.1:p.Gly247Arg
NM_001354304.2:c.739G>C	NP_001341233.1:p.Gly247Arg