Canonical Allele Identifier: CA10603804

Gene: PAH

Linked Data

• ClinVar Variation Id: 281073
• ClinVar RCV Id: RCV000350174 ; RCV000721175
• dbSNP Id: rs886042096
• MyVariant Identifiers: chr12:g.103238196G>A (hg19) ; chr12:g.102844418G>A (hg38)
• ERepo: CA10603804/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844418G>A , CM000674.2:g.102844418G>A	GRCh38
NC_000012.11:g.103238196G>A , CM000674.1:g.103238196G>A	GRCh37
NC_000012.10:g.101762326G>A	NCBI36
NG_008690.1:g.78185C>T
NG_008690.2:g.118993C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.983C>T MANE Select	ENSP00000448059.1:p.Thr328Ile
ENST00000307000.7:c.968C>T	ENSP00000303500.2:p.Thr323Ile
ENST00000549247.6:n.742C>T
ENST00000551114.2:n.645C>T
ENST00000553106.5:c.983C>T	ENSP00000448059.1:p.Thr328Ile
ENST00000635477.1:c.87C>T
ENST00000635528.1:n.498C>T
NM_000277.1:c.983C>T	NP_000268.1:p.Thr328Ile
XM_011538422.1:c.926C>T	XP_011536724.1:p.Thr309Ile
NM_000277.2:c.983C>T	NP_000268.1:p.Thr328Ile
NM_001354304.1:c.983C>T	NP_001341233.1:p.Thr328Ile
NM_000277.3:c.983C>T MANE Select	NP_000268.1:p.Thr328Ile
NM_001354304.2:c.983C>T	NP_001341233.1:p.Thr328Ile