Canonical Allele Identifier: CA229847
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102893
ClinVar RCV Id: RCV000089155
dbSNP Id: rs62507264
MyVariant Identifiers: chr12:g.103240734A>C (hg19) chr12:g.102846956A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846956A>C , CM000674.2:g.102846956A>C GRCh38
NC_000012.11:g.103240734A>C , CM000674.1:g.103240734A>C GRCh37
NC_000012.10:g.101764864A>C NCBI36
NG_008690.1:g.75647T>G
NG_008690.2:g.116455T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.913-5T>G MANE Select ENSP00000448059.1:n.913-5T>G
ENST00000307000.7:c.898-5T>G ENSP00000303500.2:n.898-5T>G
ENST00000549247.6:n.672-5T>G
ENST00000551114.2:n.575-5T>G
ENST00000553106.5:c.913-5T>G ENSP00000448059.1:n.913-5T>G
ENST00000635477.1:c.74-2525T>G
ENST00000635528.1:n.423T>G
NM_000277.1:c.913-5T>G NP_000268.1:n.913-5T>G
XM_011538422.1:c.913-2525T>G XP_011536724.1:n.913-2525T>G
NM_000277.2:c.913-5T>G NP_000268.1:n.913-5T>G
NM_001354304.1:c.913-5T>G NP_001341233.1:n.913-5T>G
NM_000277.3:c.913-5T>G MANE Select NP_000268.1:n.913-5T>G
NM_001354304.2:c.913-5T>G NP_001341233.1:n.913-5T>G
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