Canonical Allele Identifier: CA386493446

Gene: PAH

Linked Data

• ClinVar Variation Id: 1810387
• ClinVar RCV Id: RCV002509874
• MyVariant Identifiers: chr12:g.103238163G>A (hg19) ; chr12:g.102844385G>A (hg38)
• ERepo: CA386493446/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844385G>A , CM000674.2:g.102844385G>A	GRCh38
NC_000012.11:g.103238163G>A , CM000674.1:g.103238163G>A	GRCh37
NC_000012.10:g.101762293G>A	NCBI36
NG_008690.1:g.78218C>T
NG_008690.2:g.119026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1016C>T MANE Select	ENSP00000448059.1:p.Ser339Phe
ENST00000307000.7:c.1001C>T	ENSP00000303500.2:p.Ser334Phe
ENST00000549247.6:n.775C>T
ENST00000551114.2:n.678C>T
ENST00000553106.5:c.1016C>T	ENSP00000448059.1:p.Ser339Phe
ENST00000635477.1:c.120C>T
ENST00000635528.1:n.531C>T
NM_000277.1:c.1016C>T	NP_000268.1:p.Ser339Phe
XM_011538422.1:c.959C>T	XP_011536724.1:p.Ser320Phe
NM_000277.2:c.1016C>T	NP_000268.1:p.Ser339Phe
NM_001354304.1:c.1016C>T	NP_001341233.1:p.Ser339Phe
NM_000277.3:c.1016C>T MANE Select	NP_000268.1:p.Ser339Phe
NM_001354304.2:c.1016C>T	NP_001341233.1:p.Ser339Phe