Canonical Allele Identifier: CA229519

Gene: PAH

Linked Data

• ClinVar Variation Id: 102653
• ClinVar RCV Id: RCV000088900 ; RCV002509218
• dbSNP Id: rs199475684
• MyVariant Identifiers: chr12:g.103288512C>T (hg19) ; chr12:g.102894734C>T (hg38)
• ERepo: CA229519/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894734C>T , CM000674.2:g.102894734C>T	GRCh38
NC_000012.11:g.103288512C>T , CM000674.1:g.103288512C>T	GRCh37
NC_000012.10:g.101812642C>T	NCBI36
NG_008690.1:g.27869G>A
NG_008690.2:g.68677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.352+1G>A MANE Select	ENSP00000448059.1:n.352+1G>A
ENST00000307000.7:c.337+1G>A	ENSP00000303500.2:n.337+1G>A
ENST00000548928.1:n.274+1G>A
ENST00000549111.5:n.448+1G>A
ENST00000550978.6:c.336+1G>A
ENST00000551337.5:c.352+1G>A	ENSP00000447620.1:n.352+1G>A
ENST00000551988.5:n.441+1G>A
ENST00000553106.5:c.352+1G>A	ENSP00000448059.1:n.352+1G>A
NM_000277.1:c.352+1G>A	NP_000268.1:n.352+1G>A
XM_011538422.1:c.352+1G>A	XP_011536724.1:n.352+1G>A
NM_000277.2:c.352+1G>A	NP_000268.1:n.352+1G>A
NM_001354304.1:c.352+1G>A	NP_001341233.1:n.352+1G>A
XM_017019370.2:c.352+1G>A	XP_016874859.1:n.352+1G>A
NM_000277.3:c.352+1G>A MANE Select	NP_000268.1:n.352+1G>A
NM_001354304.2:c.352+1G>A	NP_001341233.1:n.352+1G>A