Canonical Allele Identifier: CA386493219

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103237476G>T (hg19) ; chr12:g.102843698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843698G>T , CM000674.2:g.102843698G>T	GRCh38
NC_000012.11:g.103237476G>T , CM000674.1:g.103237476G>T	GRCh37
NC_000012.10:g.101761606G>T	NCBI36
NG_008690.1:g.78905C>A
NG_008690.2:g.119713C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1147C>A MANE Select	ENSP00000448059.1:p.Gln383Lys
ENST00000307000.7:c.1132C>A	ENSP00000303500.2:p.Gln378Lys
ENST00000549247.6:n.906C>A
ENST00000551114.2:n.809C>A
ENST00000553106.5:c.1147C>A	ENSP00000448059.1:p.Gln383Lys
ENST00000635477.1:c.251C>A
ENST00000635528.1:n.662C>A
NM_000277.1:c.1147C>A	NP_000268.1:p.Gln383Lys
XM_011538422.1:c.1090C>A	XP_011536724.1:p.Gln364Lys
NM_000277.2:c.1147C>A	NP_000268.1:p.Gln383Lys
NM_001354304.1:c.1147C>A	NP_001341233.1:p.Gln383Lys
NM_000277.3:c.1147C>A MANE Select	NP_000268.1:p.Gln383Lys
NM_001354304.2:c.1147C>A	NP_001341233.1:p.Gln383Lys