Canonical Allele Identifier: CA386493515
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 439229
ClinVar RCV Id: RCV000506068
dbSNP Id: rs1555203761
MyVariant Identifiers: chr12:g.103238201C>T (hg19) chr12:g.102844423C>T (hg38)
PubMed: PMID:1349576 PMID:8051931 PMID:11747434
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844423C>T , CM000674.2:g.102844423C>T GRCh38
NC_000012.11:g.103238201C>T , CM000674.1:g.103238201C>T GRCh37
NC_000012.10:g.101762331C>T NCBI36
NG_008690.1:g.78180G>A
NG_008690.2:g.118988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.978G>A MANE Select ENSP00000448059.1:p.Trp326Ter
ENST00000307000.7:c.963G>A ENSP00000303500.2:p.Trp321Ter
ENST00000549247.6:n.737G>A
ENST00000551114.2:n.640G>A
ENST00000553106.5:c.978G>A ENSP00000448059.1:p.Trp326Ter
ENST00000635477.1:c.82G>A
ENST00000635528.1:n.493G>A
NM_000277.1:c.978G>A NP_000268.1:p.Trp326Ter
XM_011538422.1:c.921G>A XP_011536724.1:p.Trp307Ter
NM_000277.2:c.978G>A NP_000268.1:p.Trp326Ter
NM_001354304.1:c.978G>A NP_001341233.1:p.Trp326Ter
NM_000277.3:c.978G>A MANE Select NP_000268.1:p.Trp326Ter
NM_001354304.2:c.978G>A NP_001341233.1:p.Trp326Ter
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