Canonical Allele Identifier: CA481333196
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102894799-C-T
MyVariant Identifiers: chr12:g.103288577C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894799C>T , CM000674.2:g.102894799C>T GRCh38
NC_000012.11:g.103288577C>T , CM000674.1:g.103288577C>T GRCh37
NC_000012.10:g.101812707C>T NCBI36
NG_008690.1:g.27804G>A
NG_008690.2:g.68612G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.288G>A MANE Select ENSP00000448059.1:p.Lys96=
ENST00000307000.7:c.273G>A ENSP00000303500.2:p.Lys91=
ENST00000546844.1:c.288G>A ENSP00000446658.1:p.Lys96=
ENST00000548928.1:n.210G>A
ENST00000549111.5:n.384G>A
ENST00000550978.6:c.272G>A
ENST00000551337.5:c.288G>A ENSP00000447620.1:p.Lys96=
ENST00000551988.5:n.377G>A
ENST00000553106.5:c.288G>A ENSP00000448059.1:p.Lys96=
NM_000277.1:c.288G>A NP_000268.1:p.Lys96=
XM_011538422.1:c.288G>A XP_011536724.1:p.Lys96=
NM_000277.2:c.288G>A NP_000268.1:p.Lys96=
NM_001354304.1:c.288G>A NP_001341233.1:p.Lys96=
XM_017019370.2:c.288G>A XP_016874859.1:p.Lys96=
NM_000277.3:c.288G>A MANE Select NP_000268.1:p.Lys96=
NM_001354304.2:c.288G>A NP_001341233.1:p.Lys96=
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