Canonical Allele Identifier: CA386493046

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234246G>C (hg19) ; chr12:g.102840468G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840468G>C , CM000674.2:g.102840468G>C	GRCh38
NC_000012.11:g.103234246G>C , CM000674.1:g.103234246G>C	GRCh37
NC_000012.10:g.101758376G>C	NCBI36
NG_008690.1:g.82135C>G
NG_008690.2:g.122943C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1247C>G MANE Select	ENSP00000448059.1:p.Pro416Arg
ENST00000307000.7:c.1232C>G	ENSP00000303500.2:p.Pro411Arg
ENST00000551114.2:n.909C>G
ENST00000553106.5:c.1247C>G	ENSP00000448059.1:p.Pro416Arg
ENST00000635477.1:c.351C>G
ENST00000635528.1:n.762C>G
NM_000277.1:c.1247C>G	NP_000268.1:p.Pro416Arg
XM_011538422.1:c.1190C>G	XP_011536724.1:p.Pro397Arg
NM_000277.2:c.1247C>G	NP_000268.1:p.Pro416Arg
NM_001354304.1:c.1247C>G	NP_001341233.1:p.Pro416Arg
NM_000277.3:c.1247C>G MANE Select	NP_000268.1:p.Pro416Arg
NM_001354304.2:c.1247C>G	NP_001341233.1:p.Pro416Arg