Canonical Allele Identifier: CA229426

Gene: PAH

Linked Data

• ClinVar Variation Id: 102585
• ClinVar RCV Id: RCV000088824 ; RCV001789756
• dbSNP Id: rs199475607
• MyVariant Identifiers: chr12:g.103234204A>G (hg19) ; chr12:g.102840426A>G (hg38)
• ERepo: CA229426/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840426A>G , CM000674.2:g.102840426A>G	GRCh38
NC_000012.11:g.103234204A>G , CM000674.1:g.103234204A>G	GRCh37
NC_000012.10:g.101758334A>G	NCBI36
NG_008690.1:g.82177T>C
NG_008690.2:g.122985T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1289T>C MANE Select	ENSP00000448059.1:p.Leu430Pro
ENST00000307000.7:c.1274T>C	ENSP00000303500.2:p.Leu425Pro
ENST00000551114.2:n.951T>C
ENST00000553106.5:c.1289T>C	ENSP00000448059.1:p.Leu430Pro
ENST00000635477.1:c.393T>C
ENST00000635528.1:n.804T>C
NM_000277.1:c.1289T>C	NP_000268.1:p.Leu430Pro
XM_011538422.1:c.1232T>C	XP_011536724.1:p.Leu411Pro
NM_000277.2:c.1289T>C	NP_000268.1:p.Leu430Pro
NM_001354304.1:c.1289T>C	NP_001341233.1:p.Leu430Pro
NM_000277.3:c.1289T>C MANE Select	NP_000268.1:p.Leu430Pro
NM_001354304.2:c.1289T>C	NP_001341233.1:p.Leu430Pro