Canonical Allele Identifier: CA229855

Gene: PAH

Linked Data

• ClinVar Variation Id: 102899
• ClinVar RCV Id: RCV000089162 ; RCV000552302
• dbSNP Id: rs62642913
• MyVariant Identifiers: chr12:g.103240713G>A (hg19) ; chr12:g.102846935G>A (hg38)
• ERepo: CA229855/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846935G>A , CM000674.2:g.102846935G>A	GRCh38
NC_000012.11:g.103240713G>A , CM000674.1:g.103240713G>A	GRCh37
NC_000012.10:g.101764843G>A	NCBI36
NG_008690.1:g.75668C>T
NG_008690.2:g.116476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.929C>T MANE Select	ENSP00000448059.1:p.Ser310Phe
ENST00000307000.7:c.914C>T	ENSP00000303500.2:p.Ser305Phe
ENST00000549247.6:n.688C>T
ENST00000551114.2:n.591C>T
ENST00000553106.5:c.929C>T	ENSP00000448059.1:p.Ser310Phe
ENST00000635477.1:c.74-2504C>T
ENST00000635528.1:n.444C>T
NM_000277.1:c.929C>T	NP_000268.1:p.Ser310Phe
XM_011538422.1:c.913-2504C>T	XP_011536724.1:n.913-2504C>T
NM_000277.2:c.929C>T	NP_000268.1:p.Ser310Phe
NM_001354304.1:c.929C>T	NP_001341233.1:p.Ser310Phe
NM_000277.3:c.929C>T MANE Select	NP_000268.1:p.Ser310Phe
NM_001354304.2:c.929C>T	NP_001341233.1:p.Ser310Phe