Canonical Allele Identifier: CA229882

Gene: PAH

Linked Data

• ClinVar Variation Id: 102918
• ClinVar RCV Id: RCV000089184 ; RCV001269320
• dbSNP Id: rs62517199
• MyVariant Identifiers: chr12:g.103238211T>G (hg19) ; chr12:g.102844433T>G (hg38)
• ERepo: CA229882/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844433T>G , CM000674.2:g.102844433T>G	GRCh38
NC_000012.11:g.103238211T>G , CM000674.1:g.103238211T>G	GRCh37
NC_000012.10:g.101762341T>G	NCBI36
NG_008690.1:g.78170A>C
NG_008690.2:g.118978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-2A>C MANE Select	ENSP00000448059.1:n.970-2A>C
ENST00000307000.7:c.955-2A>C	ENSP00000303500.2:n.955-2A>C
ENST00000549247.6:n.729-2A>C
ENST00000551114.2:n.632-2A>C
ENST00000553106.5:c.970-2A>C	ENSP00000448059.1:n.970-2A>C
ENST00000635477.1:c.74-2A>C
ENST00000635528.1:n.485-2A>C
NM_000277.1:c.970-2A>C	NP_000268.1:n.970-2A>C
XM_011538422.1:c.913-2A>C	XP_011536724.1:n.913-2A>C
NM_000277.2:c.970-2A>C	NP_000268.1:n.970-2A>C
NM_001354304.1:c.970-2A>C	NP_001341233.1:n.970-2A>C
NM_000277.3:c.970-2A>C MANE Select	NP_000268.1:n.970-2A>C
NM_001354304.2:c.970-2A>C	NP_001341233.1:n.970-2A>C