Canonical Allele Identifier: CA386297078
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1810391
ClinVar RCV Id: RCV002509878
MyVariant Identifiers: chr12:g.103249111C>G (hg19) chr12:g.102855333C>G (hg38)
ERepo: CA386297078/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855333C>G , CM000674.2:g.102855333C>G GRCh38
NC_000012.11:g.103249111C>G , CM000674.1:g.103249111C>G GRCh37
NC_000012.10:g.101773241C>G NCBI36
NG_008690.1:g.67270G>C
NG_008690.2:g.108078G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.510-1G>C MANE Select ENSP00000448059.1:n.510-1G>C
ENST00000307000.7:c.495-1G>C ENSP00000303500.2:n.495-1G>C
ENST00000549111.5:n.606-1G>C
ENST00000551988.5:n.531-1G>C
ENST00000553106.5:c.510-1G>C ENSP00000448059.1:n.510-1G>C
NM_000277.1:c.510-1G>C NP_000268.1:n.510-1G>C
XM_011538422.1:c.510-1G>C XP_011536724.1:n.510-1G>C
NM_000277.2:c.510-1G>C NP_000268.1:n.510-1G>C
NM_001354304.1:c.510-1G>C NP_001341233.1:n.510-1G>C
XM_017019370.2:c.510-1G>C XP_016874859.1:n.510-1G>C
NM_000277.3:c.510-1G>C MANE Select NP_000268.1:n.510-1G>C
NM_001354304.2:c.510-1G>C NP_001341233.1:n.510-1G>C
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