Canonical Allele Identifier: CA16020913
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1327560
ClinVar RCV Id: RCV001789822
dbSNP Id: rs62514959
MyVariant Identifiers: chr12:g.103238202C>G (hg19) chr12:g.102844424C>G (hg38)
ERepo: CA16020913/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844424C>G , CM000674.2:g.102844424C>G GRCh38
NC_000012.11:g.103238202C>G , CM000674.1:g.103238202C>G GRCh37
NC_000012.10:g.101762332C>G NCBI36
NG_008690.1:g.78179G>C
NG_008690.2:g.118987G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.977G>C MANE Select ENSP00000448059.1:p.Trp326Ser
ENST00000307000.7:c.962G>C ENSP00000303500.2:p.Trp321Ser
ENST00000549247.6:n.736G>C
ENST00000551114.2:n.639G>C
ENST00000553106.5:c.977G>C ENSP00000448059.1:p.Trp326Ser
ENST00000635477.1:c.81G>C
ENST00000635528.1:n.492G>C
NM_000277.1:c.977G>C NP_000268.1:p.Trp326Ser
XM_011538422.1:c.920G>C XP_011536724.1:p.Trp307Ser
NM_000277.2:c.977G>C NP_000268.1:p.Trp326Ser
NM_001354304.1:c.977G>C NP_001341233.1:p.Trp326Ser
NM_000277.3:c.977G>C MANE Select NP_000268.1:p.Trp326Ser
NM_001354304.2:c.977G>C NP_001341233.1:p.Trp326Ser
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