Canonical Allele Identifier: CA386493043

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234243T>G (hg19) ; chr12:g.102840465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840465T>G , CM000674.2:g.102840465T>G	GRCh38
NC_000012.11:g.103234243T>G , CM000674.1:g.103234243T>G	GRCh37
NC_000012.10:g.101758373T>G	NCBI36
NG_008690.1:g.82138A>C
NG_008690.2:g.122946A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1250A>C MANE Select	ENSP00000448059.1:p.Tyr417Ser
ENST00000307000.7:c.1235A>C	ENSP00000303500.2:p.Tyr412Ser
ENST00000551114.2:n.912A>C
ENST00000553106.5:c.1250A>C	ENSP00000448059.1:p.Tyr417Ser
ENST00000635477.1:c.354A>C
ENST00000635528.1:n.765A>C
NM_000277.1:c.1250A>C	NP_000268.1:p.Tyr417Ser
XM_011538422.1:c.1193A>C	XP_011536724.1:p.Tyr398Ser
NM_000277.2:c.1250A>C	NP_000268.1:p.Tyr417Ser
NM_001354304.1:c.1250A>C	NP_001341233.1:p.Tyr417Ser
NM_000277.3:c.1250A>C MANE Select	NP_000268.1:p.Tyr417Ser
NM_001354304.2:c.1250A>C	NP_001341233.1:p.Tyr417Ser