Canonical Allele Identifier: CA386291805
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 553019
ClinVar RCV Id: RCV000668382
dbSNP Id: rs1555203951
MyVariant Identifiers: chr12:g.103240731T>G (hg19) chr12:g.102846953T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846953T>G , CM000674.2:g.102846953T>G GRCh38
NC_000012.11:g.103240731T>G , CM000674.1:g.103240731T>G GRCh37
NC_000012.10:g.101764861T>G NCBI36
NG_008690.1:g.75650A>C
NG_008690.2:g.116458A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.913-2A>C MANE Select ENSP00000448059.1:n.913-2A>C
ENST00000307000.7:c.898-2A>C ENSP00000303500.2:n.898-2A>C
ENST00000549247.6:n.672-2A>C
ENST00000551114.2:n.575-2A>C
ENST00000553106.5:c.913-2A>C ENSP00000448059.1:n.913-2A>C
ENST00000635477.1:c.74-2522A>C
ENST00000635528.1:n.426A>C
NM_000277.1:c.913-2A>C NP_000268.1:n.913-2A>C
XM_011538422.1:c.913-2522A>C XP_011536724.1:n.913-2522A>C
NM_000277.2:c.913-2A>C NP_000268.1:n.913-2A>C
NM_001354304.1:c.913-2A>C NP_001341233.1:n.913-2A>C
NM_000277.3:c.913-2A>C MANE Select NP_000268.1:n.913-2A>C
NM_001354304.2:c.913-2A>C NP_001341233.1:n.913-2A>C
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