Canonical Allele Identifier: CA386302290
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs143358918
gnomAD v2: 12-103306575-T-G
gnomAD v4: 12-102912797-T-G
MyVariant Identifiers: chr12:g.103306575T>G (hg19) chr12:g.102912797T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912797T>G , CM000674.2:g.102912797T>G GRCh38
NC_000012.11:g.103306575T>G , CM000674.1:g.103306575T>G GRCh37
NC_000012.10:g.101830705T>G NCBI36
NG_008690.1:g.9806A>C
NG_008690.2:g.50614A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.162A>C MANE Select ENSP00000448059.1:p.Leu54Phe
ENST00000307000.7:c.147A>C ENSP00000303500.2:p.Leu49Phe
ENST00000546844.1:c.162A>C ENSP00000446658.1:p.Leu54Phe
ENST00000548677.2:n.249A>C
ENST00000548928.1:n.84A>C
ENST00000549111.5:n.258A>C
ENST00000550978.6:c.146A>C
ENST00000551337.5:c.162A>C ENSP00000447620.1:p.Leu54Phe
ENST00000551988.5:n.251A>C
ENST00000553106.5:c.162A>C ENSP00000448059.1:p.Leu54Phe
ENST00000635500.1:n.130A>C
NM_000277.1:c.162A>C NP_000268.1:p.Leu54Phe
XM_011538422.1:c.162A>C XP_011536724.1:p.Leu54Phe
NM_000277.2:c.162A>C NP_000268.1:p.Leu54Phe
NM_001354304.1:c.162A>C NP_001341233.1:p.Leu54Phe
XM_017019370.2:c.162A>C XP_016874859.1:p.Leu54Phe
NM_000277.3:c.162A>C MANE Select NP_000268.1:p.Leu54Phe
NM_001354304.2:c.162A>C NP_001341233.1:p.Leu54Phe
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