Canonical Allele Identifier: CA229417

Gene: PAH

Linked Data

• ClinVar Variation Id: 102579
• ClinVar RCV Id: RCV000088817
• dbSNP Id: rs62644471
• MyVariant Identifiers: chr12:g.103234244A>G (hg19) ; chr12:g.102840466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840466A>G , CM000674.2:g.102840466A>G	GRCh38
NC_000012.11:g.103234244A>G , CM000674.1:g.103234244A>G	GRCh37
NC_000012.10:g.101758374A>G	NCBI36
NG_008690.1:g.82137T>C
NG_008690.2:g.122945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1249T>C MANE Select	ENSP00000448059.1:p.Tyr417His
ENST00000307000.7:c.1234T>C	ENSP00000303500.2:p.Tyr412His
ENST00000551114.2:n.911T>C
ENST00000553106.5:c.1249T>C	ENSP00000448059.1:p.Tyr417His
ENST00000635477.1:c.353T>C
ENST00000635528.1:n.764T>C
NM_000277.1:c.1249T>C	NP_000268.1:p.Tyr417His
XM_011538422.1:c.1192T>C	XP_011536724.1:p.Tyr398His
NM_000277.2:c.1249T>C	NP_000268.1:p.Tyr417His
NM_001354304.1:c.1249T>C	NP_001341233.1:p.Tyr417His
NM_000277.3:c.1249T>C MANE Select	NP_000268.1:p.Tyr417His
NM_001354304.2:c.1249T>C	NP_001341233.1:p.Tyr417His