Canonical Allele Identifier: CA386296691
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103248997T>A (hg19) chr12:g.102855219T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.623A>T MANE Select ENSP00000448059.1:p.His208Leu
ENST00000307000.7:c.608A>T ENSP00000303500.2:p.His203Leu
ENST00000549111.5:n.719A>T
ENST00000553106.5:c.623A>T ENSP00000448059.1:p.His208Leu
NM_000277.1:c.623A>T NP_000268.1:p.His208Leu
XM_011538422.1:c.623A>T XP_011536724.1:p.His208Leu
NM_000277.2:c.623A>T NP_000268.1:p.His208Leu
NM_001354304.1:c.623A>T NP_001341233.1:p.His208Leu
XM_017019370.2:c.623A>T XP_016874859.1:p.His208Leu
NM_000277.3:c.623A>T MANE Select NP_000268.1:p.His208Leu
NM_001354304.2:c.623A>T NP_001341233.1:p.His208Leu
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