Canonical Allele Identifier: CA607426829
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1219374072
gnomAD v2: 12-103233022-G-T
gnomAD v4: 12-102839244-G-T
MyVariant Identifiers: chr12:g.103233022G>T (hg19) chr12:g.102839244G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839244G>T , CM000674.2:g.102839244G>T GRCh38
NC_000012.11:g.103233022G>T , CM000674.1:g.103233022G>T GRCh37
NC_000012.10:g.101757152G>T NCBI36
NG_008690.1:g.83359C>A
NG_008690.2:g.124167C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316-26C>A MANE Select ENSP00000448059.1:n.1316-26C>A
ENST00000307000.7:c.1301-26C>A ENSP00000303500.2:n.1301-26C>A
ENST00000551114.2:n.978-26C>A
ENST00000553106.5:c.1316-26C>A ENSP00000448059.1:n.1316-26C>A
ENST00000635477.1:c.420-26C>A
ENST00000635528.1:n.831-26C>A
NM_000277.1:c.1316-26C>A NP_000268.1:n.1316-26C>A
XM_011538422.1:c.1259-26C>A XP_011536724.1:n.1259-26C>A
NM_000277.2:c.1316-26C>A NP_000268.1:n.1316-26C>A
NM_001354304.1:c.1316-26C>A NP_001341233.1:n.1316-26C>A
NM_000277.3:c.1316-26C>A MANE Select NP_000268.1:n.1316-26C>A
NM_001354304.2:c.1316-26C>A NP_001341233.1:n.1316-26C>A
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