Canonical Allele Identifier: CA682805992
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1448430155
gnomAD v3: 12-102854132-G-C
gnomAD v4: 12-102854132-G-C
MyVariant Identifiers: chr12:g.103247910G>C (hg19) chr12:g.102854132G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854132G>C , CM000674.2:g.102854132G>C GRCh38
NC_000012.11:g.103247910G>C , CM000674.1:g.103247910G>C GRCh37
NC_000012.10:g.101772040G>C NCBI36
NG_008690.1:g.68471C>G
NG_008690.2:g.109279C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+1004C>G MANE Select ENSP00000448059.1:n.706+1004C>G
ENST00000307000.7:c.691+1004C>G ENSP00000303500.2:n.691+1004C>G
ENST00000553106.5:c.706+1004C>G ENSP00000448059.1:n.706+1004C>G
NM_000277.1:c.706+1004C>G NP_000268.1:n.706+1004C>G
XM_011538422.1:c.706+1004C>G XP_011536724.1:n.706+1004C>G
NM_000277.2:c.706+1004C>G NP_000268.1:n.706+1004C>G
NM_001354304.1:c.706+1004C>G NP_001341233.1:n.706+1004C>G
XM_017019370.2:c.*653C>G XP_016874859.1:n.*653C>G
NM_000277.3:c.706+1004C>G MANE Select NP_000268.1:n.706+1004C>G
NM_001354304.2:c.706+1004C>G NP_001341233.1:n.706+1004C>G
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