Canonical Allele Identifier: CA229384

Gene: PAH

Linked Data

• ClinVar Variation Id: 102555
• ClinVar RCV Id: RCV000088789 ; RCV000316500
• dbSNP Id: rs62508613
• gnomAD v3: 12-102843629-C-T
• gnomAD v4: 12-102843629-C-T
• MyVariant Identifiers: chr12:g.103237407C>T (hg19) ; chr12:g.102843629C>T (hg38)
• PubMed: PMID:11180595

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843629C>T , CM000674.2:g.102843629C>T	GRCh38
NC_000012.11:g.103237407C>T , CM000674.1:g.103237407C>T	GRCh37
NC_000012.10:g.101761537C>T	NCBI36
NG_008690.1:g.78974G>A
NG_008690.2:g.119782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1199+17G>A MANE Select	ENSP00000448059.1:n.1199+17G>A
ENST00000307000.7:c.1184+17G>A	ENSP00000303500.2:n.1184+17G>A
ENST00000549247.6:n.958+17G>A
ENST00000551114.2:n.861+17G>A
ENST00000553106.5:c.1199+17G>A	ENSP00000448059.1:n.1199+17G>A
ENST00000635477.1:c.303+17G>A
ENST00000635528.1:n.714+17G>A
NM_000277.1:c.1199+17G>A	NP_000268.1:n.1199+17G>A
XM_011538422.1:c.1142+17G>A	XP_011536724.1:n.1142+17G>A
NM_000277.2:c.1199+17G>A	NP_000268.1:n.1199+17G>A
NM_001354304.1:c.1199+17G>A	NP_001341233.1:n.1199+17G>A
NM_000277.3:c.1199+17G>A MANE Select	NP_000268.1:n.1199+17G>A
NM_001354304.2:c.1199+17G>A	NP_001341233.1:n.1199+17G>A