Canonical Allele Identifier: CA386291656
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103240701G>A (hg19) chr12:g.102846923G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846923G>A , CM000674.2:g.102846923G>A GRCh38
NC_000012.11:g.103240701G>A , CM000674.1:g.103240701G>A GRCh37
NC_000012.10:g.101764831G>A NCBI36
NG_008690.1:g.75680C>T
NG_008690.2:g.116488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.941C>T MANE Select ENSP00000448059.1:p.Pro314Leu
ENST00000307000.7:c.926C>T ENSP00000303500.2:p.Pro309Leu
ENST00000549247.6:n.700C>T
ENST00000551114.2:n.603C>T
ENST00000553106.5:c.941C>T ENSP00000448059.1:p.Pro314Leu
ENST00000635477.1:c.74-2492C>T
ENST00000635528.1:n.456C>T
NM_000277.1:c.941C>T NP_000268.1:p.Pro314Leu
XM_011538422.1:c.913-2492C>T XP_011536724.1:n.913-2492C>T
NM_000277.2:c.941C>T NP_000268.1:p.Pro314Leu
NM_001354304.1:c.941C>T NP_001341233.1:p.Pro314Leu
NM_000277.3:c.941C>T MANE Select NP_000268.1:p.Pro314Leu
NM_001354304.2:c.941C>T NP_001341233.1:p.Pro314Leu
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