Canonical Allele Identifier: CA229865

Gene: PAH

Linked Data

• ClinVar Variation Id: 102905
• ClinVar RCV Id: RCV000089169 ; RCV000758098
• dbSNP Id: rs199475650
• MyVariant Identifiers: chr12:g.103240702G>A (hg19) ; chr12:g.102846924G>A (hg38)
• ERepo: CA229865/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846924G>A , CM000674.2:g.102846924G>A	GRCh38
NC_000012.11:g.103240702G>A , CM000674.1:g.103240702G>A	GRCh37
NC_000012.10:g.101764832G>A	NCBI36
NG_008690.1:g.75679C>T
NG_008690.2:g.116487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.940C>T MANE Select	ENSP00000448059.1:p.Pro314Ser
ENST00000307000.7:c.925C>T	ENSP00000303500.2:p.Pro309Ser
ENST00000549247.6:n.699C>T
ENST00000551114.2:n.602C>T
ENST00000553106.5:c.940C>T	ENSP00000448059.1:p.Pro314Ser
ENST00000635477.1:c.74-2493C>T
ENST00000635528.1:n.455C>T
NM_000277.1:c.940C>T	NP_000268.1:p.Pro314Ser
XM_011538422.1:c.913-2493C>T	XP_011536724.1:n.913-2493C>T
NM_000277.2:c.940C>T	NP_000268.1:p.Pro314Ser
NM_001354304.1:c.940C>T	NP_001341233.1:p.Pro314Ser
NM_000277.3:c.940C>T MANE Select	NP_000268.1:p.Pro314Ser
NM_001354304.2:c.940C>T	NP_001341233.1:p.Pro314Ser