Canonical Allele Identifier: CA229509

Gene: PAH

Linked Data

• ClinVar Variation Id: 102647
• ClinVar RCV Id: RCV000088893 ; RCV000993612
• dbSNP Id: rs62508575
• gnomAD v3: 12-102917129-A-C
• gnomAD v4: 12-102917129-A-C
• MyVariant Identifiers: chr12:g.103310907A>C (hg19) ; chr12:g.102917129A>C (hg38)
• ERepo: CA229509/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917129A>C , CM000674.2:g.102917129A>C	GRCh38
NC_000012.11:g.103310907A>C , CM000674.1:g.103310907A>C	GRCh37
NC_000012.10:g.101835037A>C	NCBI36
NG_008690.1:g.5474T>G
NG_008690.2:g.46282T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.2T>G MANE Select	ENSP00000448059.1:p.Met1Arg
ENST00000307000.7:c.-146T>G	ENSP00000303500.2:n.-146T>G
ENST00000546844.1:c.2T>G	ENSP00000446658.1:p.Met1Arg
ENST00000547319.1:n.313T>G
ENST00000549111.5:n.98T>G
ENST00000551337.5:c.2T>G	ENSP00000447620.1:p.Met1Arg
ENST00000551988.5:n.91T>G
ENST00000553106.5:c.2T>G	ENSP00000448059.1:p.Met1Arg
ENST00000635500.1:n.29-4231T>G
NM_000277.1:c.2T>G	NP_000268.1:p.Met1Arg
XM_011538422.1:c.2T>G	XP_011536724.1:p.Met1Arg
NM_000277.2:c.2T>G	NP_000268.1:p.Met1Arg
NM_001354304.1:c.2T>G	NP_001341233.1:p.Met1Arg
XM_017019370.2:c.2T>G	XP_016874859.1:p.Met1Arg
NM_000277.3:c.2T>G MANE Select	NP_000268.1:p.Met1Arg
NM_001354304.2:c.2T>G	NP_001341233.1:p.Met1Arg