Canonical Allele Identifier: CA242465465

Gene: PAH

Linked Data

• dbSNP Id: rs1032911183
• MyVariant Identifiers: chr12:g.103240538G>C (hg19) ; chr12:g.102846760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846760G>C , CM000674.2:g.102846760G>C	GRCh38
NC_000012.11:g.103240538G>C , CM000674.1:g.103240538G>C	GRCh37
NC_000012.10:g.101764668G>C	NCBI36
NG_008690.1:g.75843C>G
NG_008690.2:g.116651C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.969+135C>G MANE Select	ENSP00000448059.1:n.969+135C>G
ENST00000307000.7:c.954+135C>G	ENSP00000303500.2:n.954+135C>G
ENST00000549247.6:n.728+135C>G
ENST00000551114.2:n.631+135C>G
ENST00000553106.5:c.969+135C>G	ENSP00000448059.1:n.969+135C>G
ENST00000635477.1:c.74-2329C>G
ENST00000635528.1:n.484+135C>G
NM_000277.1:c.969+135C>G	NP_000268.1:n.969+135C>G
XM_011538422.1:c.913-2329C>G	XP_011536724.1:n.913-2329C>G
NM_000277.2:c.969+135C>G	NP_000268.1:n.969+135C>G
NM_001354304.1:c.969+135C>G	NP_001341233.1:n.969+135C>G
NM_000277.3:c.969+135C>G MANE Select	NP_000268.1:n.969+135C>G
NM_001354304.2:c.969+135C>G	NP_001341233.1:n.969+135C>G