Canonical Allele Identifier: CA2575266705

Gene: PAH

Linked Data

• gnomAD v4: 12-102840350-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840350T>A , CM000674.2:g.102840350T>A	GRCh38
NC_000012.11:g.103234128T>A , CM000674.1:g.103234128T>A	GRCh37
NC_000012.10:g.101758258T>A	NCBI36
NG_008690.1:g.82253A>T
NG_008690.2:g.123061A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1315+50A>T MANE Select	ENSP00000448059.1:n.1315+50A>T
ENST00000307000.7:c.1300+50A>T	ENSP00000303500.2:n.1300+50A>T
ENST00000551114.2:n.977+50A>T
ENST00000553106.5:c.1315+50A>T	ENSP00000448059.1:n.1315+50A>T
ENST00000635477.1:c.419+50A>T
ENST00000635528.1:n.830+50A>T
NM_000277.1:c.1315+50A>T	NP_000268.1:n.1315+50A>T
XM_011538422.1:c.1258+50A>T	XP_011536724.1:n.1258+50A>T
NM_000277.2:c.1315+50A>T	NP_000268.1:n.1315+50A>T
NM_001354304.1:c.1315+50A>T	NP_001341233.1:n.1315+50A>T
NM_000277.3:c.1315+50A>T MANE Select	NP_000268.1:n.1315+50A>T
NM_001354304.2:c.1315+50A>T	NP_001341233.1:n.1315+50A>T