Canonical Allele Identifier: CA229879

Gene: PAH

Linked Data

• ClinVar Variation Id: 102915
• ClinVar RCV Id: RCV000089181 ; RCV001093511
• dbSNP Id: rs62508637
• gnomAD v4: 12-102846890-C-T
• MyVariant Identifiers: chr12:g.103240668C>T (hg19) ; chr12:g.102846890C>T (hg38)
• ERepo: CA229879/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846890C>T , CM000674.2:g.102846890C>T	GRCh38
NC_000012.11:g.103240668C>T , CM000674.1:g.103240668C>T	GRCh37
NC_000012.10:g.101764798C>T	NCBI36
NG_008690.1:g.75713G>A
NG_008690.2:g.116521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.969+5G>A MANE Select	ENSP00000448059.1:n.969+5G>A
ENST00000307000.7:c.954+5G>A	ENSP00000303500.2:n.954+5G>A
ENST00000549247.6:n.728+5G>A
ENST00000551114.2:n.631+5G>A
ENST00000553106.5:c.969+5G>A	ENSP00000448059.1:n.969+5G>A
ENST00000635477.1:c.74-2459G>A
ENST00000635528.1:n.484+5G>A
NM_000277.1:c.969+5G>A	NP_000268.1:n.969+5G>A
XM_011538422.1:c.913-2459G>A	XP_011536724.1:n.913-2459G>A
NM_000277.2:c.969+5G>A	NP_000268.1:n.969+5G>A
NM_001354304.1:c.969+5G>A	NP_001341233.1:n.969+5G>A
NM_000277.3:c.969+5G>A MANE Select	NP_000268.1:n.969+5G>A
NM_001354304.2:c.969+5G>A	NP_001341233.1:n.969+5G>A