Canonical Allele Identifier: CA229596

Gene: PAH

Linked Data

• ClinVar Variation Id: 102714
• ClinVar RCV Id: RCV000088962 ; RCV001269312
• dbSNP Id: rs62507281
• MyVariant Identifiers: chr12:g.103249116A>C (hg19) ; chr12:g.102855338A>C (hg38)
• ERepo: CA229596/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855338A>C , CM000674.2:g.102855338A>C	GRCh38
NC_000012.11:g.103249116A>C , CM000674.1:g.103249116A>C	GRCh37
NC_000012.10:g.101773246A>C	NCBI36
NG_008690.1:g.67265T>G
NG_008690.2:g.108073T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.510-6T>G MANE Select	ENSP00000448059.1:n.510-6T>G
ENST00000307000.7:c.495-6T>G	ENSP00000303500.2:n.495-6T>G
ENST00000549111.5:n.606-6T>G
ENST00000551988.5:n.531-6T>G
ENST00000553106.5:c.510-6T>G	ENSP00000448059.1:n.510-6T>G
NM_000277.1:c.510-6T>G	NP_000268.1:n.510-6T>G
XM_011538422.1:c.510-6T>G	XP_011536724.1:n.510-6T>G
NM_000277.2:c.510-6T>G	NP_000268.1:n.510-6T>G
NM_001354304.1:c.510-6T>G	NP_001341233.1:n.510-6T>G
XM_017019370.2:c.510-6T>G	XP_016874859.1:n.510-6T>G
NM_000277.3:c.510-6T>G MANE Select	NP_000268.1:n.510-6T>G
NM_001354304.2:c.510-6T>G	NP_001341233.1:n.510-6T>G