Canonical Allele Identifier: CA386291635
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1180470263
gnomAD v3: 12-102846919-A-C
gnomAD v4: 12-102846919-A-C
MyVariant Identifiers: chr12:g.103240697A>C (hg19) chr12:g.102846919A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846919A>C , CM000674.2:g.102846919A>C GRCh38
NC_000012.11:g.103240697A>C , CM000674.1:g.103240697A>C GRCh37
NC_000012.10:g.101764827A>C NCBI36
NG_008690.1:g.75684T>G
NG_008690.2:g.116492T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.945T>G MANE Select ENSP00000448059.1:p.Asp315Glu
ENST00000307000.7:c.930T>G ENSP00000303500.2:p.Asp310Glu
ENST00000549247.6:n.704T>G
ENST00000551114.2:n.607T>G
ENST00000553106.5:c.945T>G ENSP00000448059.1:p.Asp315Glu
ENST00000635477.1:c.74-2488T>G
ENST00000635528.1:n.460T>G
NM_000277.1:c.945T>G NP_000268.1:p.Asp315Glu
XM_011538422.1:c.913-2488T>G XP_011536724.1:n.913-2488T>G
NM_000277.2:c.945T>G NP_000268.1:p.Asp315Glu
NM_001354304.1:c.945T>G NP_001341233.1:p.Asp315Glu
NM_000277.3:c.945T>G MANE Select NP_000268.1:p.Asp315Glu
NM_001354304.2:c.945T>G NP_001341233.1:p.Asp315Glu
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