Canonical Allele Identifier: CA386296692
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102855219-T-C
MyVariant Identifiers: chr12:g.103248997T>C (hg19) chr12:g.102855219T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855219T>C , CM000674.2:g.102855219T>C GRCh38
NC_000012.11:g.103248997T>C , CM000674.1:g.103248997T>C GRCh37
NC_000012.10:g.101773127T>C NCBI36
NG_008690.1:g.67384A>G
NG_008690.2:g.108192A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.623A>G MANE Select ENSP00000448059.1:p.His208Arg
ENST00000307000.7:c.608A>G ENSP00000303500.2:p.His203Arg
ENST00000549111.5:n.719A>G
ENST00000553106.5:c.623A>G ENSP00000448059.1:p.His208Arg
NM_000277.1:c.623A>G NP_000268.1:p.His208Arg
XM_011538422.1:c.623A>G XP_011536724.1:p.His208Arg
NM_000277.2:c.623A>G NP_000268.1:p.His208Arg
NM_001354304.1:c.623A>G NP_001341233.1:p.His208Arg
XM_017019370.2:c.623A>G XP_016874859.1:p.His208Arg
NM_000277.3:c.623A>G MANE Select NP_000268.1:p.His208Arg
NM_001354304.2:c.623A>G NP_001341233.1:p.His208Arg
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