Canonical Allele Identifier: CA229409

Gene: PAH

Linked Data

• ClinVar Variation Id: 102574
• ClinVar RCV Id: RCV000088810 ; RCV002509216
• dbSNP Id: rs62644477
• MyVariant Identifiers: chr12:g.103234261G>T (hg19) ; chr12:g.102840483G>T (hg38)
• ERepo: CA229409/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840483G>T , CM000674.2:g.102840483G>T	GRCh38
NC_000012.11:g.103234261G>T , CM000674.1:g.103234261G>T	GRCh37
NC_000012.10:g.101758391G>T	NCBI36
NG_008690.1:g.82120C>A
NG_008690.2:g.122928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1232C>A MANE Select	ENSP00000448059.1:p.Ser411Ter
ENST00000307000.7:c.1217C>A	ENSP00000303500.2:p.Ser406Ter
ENST00000551114.2:n.894C>A
ENST00000553106.5:c.1232C>A	ENSP00000448059.1:p.Ser411Ter
ENST00000635477.1:c.336C>A
ENST00000635528.1:n.747C>A
NM_000277.1:c.1232C>A	NP_000268.1:p.Ser411Ter
XM_011538422.1:c.1175C>A	XP_011536724.1:p.Ser392Ter
NM_000277.2:c.1232C>A	NP_000268.1:p.Ser411Ter
NM_001354304.1:c.1232C>A	NP_001341233.1:p.Ser411Ter
NM_000277.3:c.1232C>A MANE Select	NP_000268.1:p.Ser411Ter
NM_001354304.2:c.1232C>A	NP_001341233.1:p.Ser411Ter