Canonical Allele Identifier: CA267675

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852845T>A , CM000674.2:g.102852845T>A	GRCh38
NC_000012.11:g.103246623T>A , CM000674.1:g.103246623T>A	GRCh37
NC_000012.10:g.101770753T>A	NCBI36
NG_008690.1:g.69758A>T
NG_008690.2:g.110566A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.812A>T MANE Select	NP_000268.1:p.His271Leu
ENST00000553106.6:c.812A>T MANE Select	ENSP00000448059.1:p.His271Leu
NM_000277.1:c.812A>T	NP_000268.1:p.His271Leu
NM_000277.2:c.812A>T	NP_000268.1:p.His271Leu
NM_001354304.1:c.812A>T	NP_001341233.1:p.His271Leu
NM_001354304.2:c.812A>T	NP_001341233.1:p.His271Leu
ENST00000307000.7:c.797A>T	ENSP00000303500.2:p.His266Leu
ENST00000549247.6:n.571A>T
ENST00000553106.5:c.812A>T	ENSP00000448059.1:p.His271Leu
XM_011538422.1:c.812A>T	XP_011536724.1:p.His271Leu