Canonical Allele Identifier: CA229782

Gene: PAH

Linked Data

• ClinVar Variation Id: 102847
• ClinVar RCV Id: RCV000089106 ; RCV003323400
• dbSNP Id: rs62514951
• MyVariant Identifiers: chr12:g.103246625T>A (hg19) ; chr12:g.102852847T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852847T>A , CM000674.2:g.102852847T>A	GRCh38
NC_000012.11:g.103246625T>A , CM000674.1:g.103246625T>A	GRCh37
NC_000012.10:g.101770755T>A	NCBI36
NG_008690.1:g.69756A>T
NG_008690.2:g.110564A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.810A>T MANE Select	ENSP00000448059.1:p.Arg270Ser
ENST00000307000.7:c.795A>T	ENSP00000303500.2:p.Arg265Ser
ENST00000549247.6:n.569A>T
ENST00000553106.5:c.810A>T	ENSP00000448059.1:p.Arg270Ser
NM_000277.1:c.810A>T	NP_000268.1:p.Arg270Ser
XM_011538422.1:c.810A>T	XP_011536724.1:p.Arg270Ser
NM_000277.2:c.810A>T	NP_000268.1:p.Arg270Ser
NM_001354304.1:c.810A>T	NP_001341233.1:p.Arg270Ser
NM_000277.3:c.810A>T MANE Select	NP_000268.1:p.Arg270Ser
NM_001354304.2:c.810A>T	NP_001341233.1:p.Arg270Ser