Canonical Allele Identifier: CA481375632

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103237471G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843693G>A , CM000674.2:g.102843693G>A	GRCh38
NC_000012.11:g.103237471G>A , CM000674.1:g.103237471G>A	GRCh37
NC_000012.10:g.101761601G>A	NCBI36
NG_008690.1:g.78910C>T
NG_008690.2:g.119718C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1152C>T MANE Select	ENSP00000448059.1:p.Pro384=
ENST00000307000.7:c.1137C>T	ENSP00000303500.2:p.Pro379=
ENST00000549247.6:n.911C>T
ENST00000551114.2:n.814C>T
ENST00000553106.5:c.1152C>T	ENSP00000448059.1:p.Pro384=
ENST00000635477.1:c.256C>T
ENST00000635528.1:n.667C>T
NM_000277.1:c.1152C>T	NP_000268.1:p.Pro384=
XM_011538422.1:c.1095C>T	XP_011536724.1:p.Pro365=
NM_000277.2:c.1152C>T	NP_000268.1:p.Pro384=
NM_001354304.1:c.1152C>T	NP_001341233.1:p.Pro384=
NM_000277.3:c.1152C>T MANE Select	NP_000268.1:p.Pro384=
NM_001354304.2:c.1152C>T	NP_001341233.1:p.Pro384=