Canonical Allele Identifier: CA6748876
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs762075896
ExAC: 12:103248872 C / G
gnomAD v2: 12-103248872-C-G
gnomAD v4: 12-102855094-C-G
MyVariant Identifiers: chr12:g.103248872C>G (hg19) chr12:g.102855094C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855094C>G , CM000674.2:g.102855094C>G GRCh38
NC_000012.11:g.103248872C>G , CM000674.1:g.103248872C>G GRCh37
NC_000012.10:g.101773002C>G NCBI36
NG_008690.1:g.67509G>C
NG_008690.2:g.108317G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.706+42G>C MANE Select ENSP00000448059.1:n.706+42G>C
ENST00000307000.7:c.691+42G>C ENSP00000303500.2:n.691+42G>C
ENST00000549111.5:n.844G>C
ENST00000553106.5:c.706+42G>C ENSP00000448059.1:n.706+42G>C
NM_000277.1:c.706+42G>C NP_000268.1:n.706+42G>C
XM_011538422.1:c.706+42G>C XP_011536724.1:n.706+42G>C
NM_000277.2:c.706+42G>C NP_000268.1:n.706+42G>C
NM_001354304.1:c.706+42G>C NP_001341233.1:n.706+42G>C
XM_017019370.2:c.706+42G>C XP_016874859.1:n.706+42G>C
NM_000277.3:c.706+42G>C MANE Select NP_000268.1:n.706+42G>C
NM_001354304.2:c.706+42G>C NP_001341233.1:n.706+42G>C
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