Canonical Allele Identifier: CA386294549

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103246611G>T (hg19) ; chr12:g.102852833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852833G>T , CM000674.2:g.102852833G>T	GRCh38
NC_000012.11:g.103246611G>T , CM000674.1:g.103246611G>T	GRCh37
NC_000012.10:g.101770741G>T	NCBI36
NG_008690.1:g.69770C>A
NG_008690.2:g.110578C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.824C>A MANE Select	ENSP00000448059.1:p.Pro275His
ENST00000307000.7:c.809C>A	ENSP00000303500.2:p.Pro270His
ENST00000549247.6:n.583C>A
ENST00000553106.5:c.824C>A	ENSP00000448059.1:p.Pro275His
NM_000277.1:c.824C>A	NP_000268.1:p.Pro275His
XM_011538422.1:c.824C>A	XP_011536724.1:p.Pro275His
NM_000277.2:c.824C>A	NP_000268.1:p.Pro275His
NM_001354304.1:c.824C>A	NP_001341233.1:p.Pro275His
NM_000277.3:c.824C>A MANE Select	NP_000268.1:p.Pro275His
NM_001354304.2:c.824C>A	NP_001341233.1:p.Pro275His