Canonical Allele Identifier: CA386304032
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1877426296
gnomAD v3: 12-102894789-G-C
gnomAD v4: 12-102894789-G-C
MyVariant Identifiers: chr12:g.103288567G>C (hg19) chr12:g.102894789G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894789G>C , CM000674.2:g.102894789G>C GRCh38
NC_000012.11:g.103288567G>C , CM000674.1:g.103288567G>C GRCh37
NC_000012.10:g.101812697G>C NCBI36
NG_008690.1:g.27814C>G
NG_008690.2:g.68622C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.298C>G MANE Select ENSP00000448059.1:p.His100Asp
ENST00000307000.7:c.283C>G ENSP00000303500.2:p.His95Asp
ENST00000546844.1:c.298C>G ENSP00000446658.1:p.His100Asp
ENST00000548928.1:n.220C>G
ENST00000549111.5:n.394C>G
ENST00000550978.6:c.282C>G
ENST00000551337.5:c.298C>G ENSP00000447620.1:p.His100Asp
ENST00000551988.5:n.387C>G
ENST00000553106.5:c.298C>G ENSP00000448059.1:p.His100Asp
NM_000277.1:c.298C>G NP_000268.1:p.His100Asp
XM_011538422.1:c.298C>G XP_011536724.1:p.His100Asp
NM_000277.2:c.298C>G NP_000268.1:p.His100Asp
NM_001354304.1:c.298C>G NP_001341233.1:p.His100Asp
XM_017019370.2:c.298C>G XP_016874859.1:p.His100Asp
NM_000277.3:c.298C>G MANE Select NP_000268.1:p.His100Asp
NM_001354304.2:c.298C>G NP_001341233.1:p.His100Asp
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