Canonical Allele Identifier: CA6748679
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs775391163
ExAC: 12:103232996 C / T
gnomAD v2: 12-103232996-C-T
MyVariant Identifiers: chr12:g.103232996C>T (hg19) chr12:g.102839218C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839218C>T , CM000674.2:g.102839218C>T GRCh38
NC_000012.11:g.103232996C>T , CM000674.1:g.103232996C>T GRCh37
NC_000012.10:g.101757126C>T NCBI36
NG_008690.1:g.83385G>A
NG_008690.2:g.124193G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316G>A MANE Select ENSP00000448059.1:p.Ser439Asn
ENST00000307000.7:c.1301G>A ENSP00000303500.2:p.Ser434Asn
ENST00000551114.2:n.978G>A
ENST00000553106.5:c.1316G>A ENSP00000448059.1:p.Ser439Asn
ENST00000635477.1:c.420G>A
ENST00000635528.1:n.831G>A
NM_000277.1:c.1316G>A NP_000268.1:p.Ser439Asn
XM_011538422.1:c.1259G>A XP_011536724.1:p.Ser420Asn
NM_000277.2:c.1316G>A NP_000268.1:p.Ser439Asn
NM_001354304.1:c.1316G>A NP_001341233.1:p.Ser439Asn
NM_000277.3:c.1316G>A MANE Select NP_000268.1:p.Ser439Asn
NM_001354304.2:c.1316G>A NP_001341233.1:p.Ser439Asn
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