Canonical Allele Identifier: CA386493195

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103237463T>G (hg19) ; chr12:g.102843685T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843685T>G , CM000674.2:g.102843685T>G	GRCh38
NC_000012.11:g.103237463T>G , CM000674.1:g.103237463T>G	GRCh37
NC_000012.10:g.101761593T>G	NCBI36
NG_008690.1:g.78918A>C
NG_008690.2:g.119726A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1160A>C MANE Select	ENSP00000448059.1:p.Tyr387Ser
ENST00000307000.7:c.1145A>C	ENSP00000303500.2:p.Tyr382Ser
ENST00000549247.6:n.919A>C
ENST00000551114.2:n.822A>C
ENST00000553106.5:c.1160A>C	ENSP00000448059.1:p.Tyr387Ser
ENST00000635477.1:c.264A>C
ENST00000635528.1:n.675A>C
NM_000277.1:c.1160A>C	NP_000268.1:p.Tyr387Ser
XM_011538422.1:c.1103A>C	XP_011536724.1:p.Tyr368Ser
NM_000277.2:c.1160A>C	NP_000268.1:p.Tyr387Ser
NM_001354304.1:c.1160A>C	NP_001341233.1:p.Tyr387Ser
NM_000277.3:c.1160A>C MANE Select	NP_000268.1:p.Tyr387Ser
NM_001354304.2:c.1160A>C	NP_001341233.1:p.Tyr387Ser