Canonical Allele Identifier: CA242471589
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1055048177
gnomAD v3: 12-102916727-A-G
gnomAD v4: 12-102916727-A-G
MyVariant Identifiers: chr12:g.103310505A>G (hg19) chr12:g.102916727A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916727A>G , CM000674.2:g.102916727A>G GRCh38
NC_000012.11:g.103310505A>G , CM000674.1:g.103310505A>G GRCh37
NC_000012.10:g.101834635A>G NCBI36
NG_008690.1:g.5876T>C
NG_008690.2:g.46684T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+344T>C MANE Select ENSP00000448059.1:n.60+344T>C
ENST00000307000.7:c.-88+344T>C ENSP00000303500.2:n.-88+344T>C
ENST00000546844.1:c.60+344T>C ENSP00000446658.1:n.60+344T>C
ENST00000547319.1:n.372-129T>C
ENST00000549111.5:n.156+344T>C
ENST00000550978.6:c.44+344T>C
ENST00000551337.5:c.60+344T>C ENSP00000447620.1:n.60+344T>C
ENST00000551988.5:n.149+344T>C
ENST00000553106.5:c.60+344T>C ENSP00000448059.1:n.60+344T>C
ENST00000635500.1:n.29-3829T>C
NM_000277.1:c.60+344T>C NP_000268.1:n.60+344T>C
XM_011538422.1:c.60+344T>C XP_011536724.1:n.60+344T>C
NM_000277.2:c.60+344T>C NP_000268.1:n.60+344T>C
NM_001354304.1:c.60+344T>C NP_001341233.1:n.60+344T>C
XM_017019370.2:c.60+344T>C XP_016874859.1:n.60+344T>C
NM_000277.3:c.60+344T>C MANE Select NP_000268.1:n.60+344T>C
NM_001354304.2:c.60+344T>C NP_001341233.1:n.60+344T>C
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