Canonical Allele Identifier: CA386493038

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234240G>C (hg19) ; chr12:g.102840462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840462G>C , CM000674.2:g.102840462G>C	GRCh38
NC_000012.11:g.103234240G>C , CM000674.1:g.103234240G>C	GRCh37
NC_000012.10:g.101758370G>C	NCBI36
NG_008690.1:g.82141C>G
NG_008690.2:g.122949C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1253C>G MANE Select	ENSP00000448059.1:p.Thr418Ser
ENST00000307000.7:c.1238C>G	ENSP00000303500.2:p.Thr413Ser
ENST00000551114.2:n.915C>G
ENST00000553106.5:c.1253C>G	ENSP00000448059.1:p.Thr418Ser
ENST00000635477.1:c.357C>G
ENST00000635528.1:n.768C>G
NM_000277.1:c.1253C>G	NP_000268.1:p.Thr418Ser
XM_011538422.1:c.1196C>G	XP_011536724.1:p.Thr399Ser
NM_000277.2:c.1253C>G	NP_000268.1:p.Thr418Ser
NM_001354304.1:c.1253C>G	NP_001341233.1:p.Thr418Ser
NM_000277.3:c.1253C>G MANE Select	NP_000268.1:p.Thr418Ser
NM_001354304.2:c.1253C>G	NP_001341233.1:p.Thr418Ser