Canonical Allele Identifier: CA2059441245
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874528891
gnomAD v4: 12-102840328-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840328T>C , CM000674.2:g.102840328T>C GRCh38
NC_000012.11:g.103234106T>C , CM000674.1:g.103234106T>C GRCh37
NC_000012.10:g.101758236T>C NCBI36
NG_008690.1:g.82275A>G
NG_008690.2:g.123083A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+72A>G MANE Select ENSP00000448059.1:n.1315+72A>G
ENST00000307000.7:c.1300+72A>G ENSP00000303500.2:n.1300+72A>G
ENST00000551114.2:n.977+72A>G
ENST00000553106.5:c.1315+72A>G ENSP00000448059.1:n.1315+72A>G
ENST00000635477.1:c.419+72A>G
ENST00000635528.1:n.830+72A>G
NM_000277.1:c.1315+72A>G NP_000268.1:n.1315+72A>G
XM_011538422.1:c.1258+72A>G XP_011536724.1:n.1258+72A>G
NM_000277.2:c.1315+72A>G NP_000268.1:n.1315+72A>G
NM_001354304.1:c.1315+72A>G NP_001341233.1:n.1315+72A>G
NM_000277.3:c.1315+72A>G MANE Select NP_000268.1:n.1315+72A>G
NM_001354304.2:c.1315+72A>G NP_001341233.1:n.1315+72A>G
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