Canonical Allele Identifier: CA607148598
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1274647954
gnomAD v2: 12-103306712-C-T
gnomAD v4: 12-102912934-C-T
MyVariant Identifiers: chr12:g.103306712C>T (hg19) chr12:g.102912934C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912934C>T , CM000674.2:g.102912934C>T GRCh38
NC_000012.11:g.103306712C>T , CM000674.1:g.103306712C>T GRCh37
NC_000012.10:g.101830842C>T NCBI36
NG_008690.1:g.9669G>A
NG_008690.2:g.50477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.61-36G>A MANE Select ENSP00000448059.1:n.61-36G>A
ENST00000307000.7:c.46-36G>A ENSP00000303500.2:n.46-36G>A
ENST00000546844.1:c.61-36G>A ENSP00000446658.1:n.61-36G>A
ENST00000548677.2:n.148-36G>A
ENST00000549111.5:n.157-36G>A
ENST00000550978.6:c.45-36G>A
ENST00000551337.5:c.61-36G>A ENSP00000447620.1:n.61-36G>A
ENST00000551988.5:n.150-36G>A
ENST00000553106.5:c.61-36G>A ENSP00000448059.1:n.61-36G>A
ENST00000635500.1:n.29-36G>A
NM_000277.1:c.61-36G>A NP_000268.1:n.61-36G>A
XM_011538422.1:c.61-36G>A XP_011536724.1:n.61-36G>A
NM_000277.2:c.61-36G>A NP_000268.1:n.61-36G>A
NM_001354304.1:c.61-36G>A NP_001341233.1:n.61-36G>A
XM_017019370.2:c.61-36G>A XP_016874859.1:n.61-36G>A
NM_000277.3:c.61-36G>A MANE Select NP_000268.1:n.61-36G>A
NM_001354304.2:c.61-36G>A NP_001341233.1:n.61-36G>A
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