Canonical Allele Identifier: CA10639988

Gene: PAH

Linked Data

• ClinVar Variation Id: 306918
• ClinVar RCV Id: RCV000284663
• dbSNP Id: rs886048893
• MyVariant Identifiers: chr12:g.103311140G>C (hg19) ; chr12:g.102917362G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917362G>C , CM000674.2:g.102917362G>C	GRCh38
NC_000012.11:g.103311140G>C , CM000674.1:g.103311140G>C	GRCh37
NC_000012.10:g.101835270G>C	NCBI36
NG_008690.1:g.5242C>G
NG_008690.2:g.46049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-137C>G
ENST00000546844.1:c.-95-137C>G	ENSP00000446658.1:n.-95-137C>G
ENST00000547319.1:n.217-137C>G
ENST00000551337.5:c.-95-137C>G	ENSP00000447620.1:n.-95-137C>G
ENST00000553106.5:c.-232C>G	ENSP00000448059.1:n.-232C>G
ENST00000635500.1:n.29-4464C>G
NM_000277.1:c.-231C>G	NP_000268.1:n.-231C>G
NM_000277.2:c.-232C>G	NP_000268.1:n.-232C>G
NM_001354304.1:c.-95-137C>G	NP_001341233.1:n.-95-137C>G
NM_001354304.2:c.-95-137C>G	NP_001341233.1:n.-95-137C>G