Canonical Allele Identifier: CA2979027448

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852946_102852947del , CM000674.2:g.102852946_102852947del	GRCh38
NC_000012.11:g.103246724_103246725del , CM000674.1:g.103246724_103246725del	GRCh37
NC_000012.10:g.101770854_101770855del	NCBI36
NG_008690.1:g.69656_69657del
NG_008690.2:g.110464_110465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.710_711del MANE Select	ENSP00000448059.1:p.Cys237TyrfsTer?
ENST00000307000.7:c.695_696del	ENSP00000303500.2:p.Cys232TyrfsTer?
ENST00000549247.6:n.469_470del
ENST00000553106.5:c.710_711del	ENSP00000448059.1:p.Cys237TyrfsTer?
NM_000277.1:c.710_711del	NP_000268.1:p.Cys237TyrfsTer?
XM_011538422.1:c.710_711del	XP_011536724.1:p.Cys237TyrfsTer?
NM_000277.2:c.710_711del	NP_000268.1:p.Cys237TyrfsTer?
NM_001354304.1:c.710_711del	NP_001341233.1:p.Cys237TyrfsTer?
NM_000277.3:c.710_711del MANE Select	NP_000268.1:p.Cys237TyrfsTer?
NM_001354304.2:c.710_711del	NP_001341233.1:p.Cys237TyrfsTer?