Canonical Allele Identifier: CA229816

Gene: PAH

Linked Data

• ClinVar Variation Id: 102873
• ClinVar RCV Id: RCV000089134 ; RCV000993620
• dbSNP Id: rs62509019
• MyVariant Identifiers: chr12:g.103245536T>A (hg19) ; chr12:g.102851758T>A (hg38)
• ERepo: CA229816/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851758T>A , CM000674.2:g.102851758T>A	GRCh38
NC_000012.11:g.103245536T>A , CM000674.1:g.103245536T>A	GRCh37
NC_000012.10:g.101769666T>A	NCBI36
NG_008690.1:g.70845A>T
NG_008690.2:g.111653A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-2A>T MANE Select	ENSP00000448059.1:n.843-2A>T
ENST00000307000.7:c.828-2A>T	ENSP00000303500.2:n.828-2A>T
ENST00000549247.6:n.602-2A>T
ENST00000551114.2:n.503A>T
ENST00000553106.5:c.843-2A>T	ENSP00000448059.1:n.843-2A>T
ENST00000635477.1:c.4-2A>T
NM_000277.1:c.843-2A>T	NP_000268.1:n.843-2A>T
XM_011538422.1:c.843-2A>T	XP_011536724.1:n.843-2A>T
NM_000277.2:c.843-2A>T	NP_000268.1:n.843-2A>T
NM_001354304.1:c.843-2A>T	NP_001341233.1:n.843-2A>T
NM_000277.3:c.843-2A>T MANE Select	NP_000268.1:n.843-2A>T
NM_001354304.2:c.843-2A>T	NP_001341233.1:n.843-2A>T