Canonical Allele Identifier: CA267684

Gene: PAH

Linked Data

• ClinVar Variation Id: 120292
• ClinVar RCV Id: RCV000106373
• dbSNP Id: rs281865449
• MyVariant Identifiers: chr12:g.103245463A>G (hg19) ; chr12:g.102851685A>G (hg38)
• ERepo: CA267684/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851685A>G , CM000674.2:g.102851685A>G	GRCh38
NC_000012.11:g.103245463A>G , CM000674.1:g.103245463A>G	GRCh37
NC_000012.10:g.101769593A>G	NCBI36
NG_008690.1:g.70918T>C
NG_008690.2:g.111726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+2T>C MANE Select	ENSP00000448059.1:n.912+2T>C
ENST00000307000.7:c.897+2T>C	ENSP00000303500.2:n.897+2T>C
ENST00000549247.6:n.671+2T>C
ENST00000551114.2:n.574+2T>C
ENST00000553106.5:c.912+2T>C	ENSP00000448059.1:n.912+2T>C
ENST00000635477.1:c.73+2T>C
NM_000277.1:c.912+2T>C	NP_000268.1:n.912+2T>C
XM_011538422.1:c.912+2T>C	XP_011536724.1:n.912+2T>C
NM_000277.2:c.912+2T>C	NP_000268.1:n.912+2T>C
NM_001354304.1:c.912+2T>C	NP_001341233.1:n.912+2T>C
NM_000277.3:c.912+2T>C MANE Select	NP_000268.1:n.912+2T>C
NM_001354304.2:c.912+2T>C	NP_001341233.1:n.912+2T>C