Canonical Allele Identifier: CA229871
Gene: PAH HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.102846904C>G
GRCh37 chr12:g.103240682C>G
Revel Score:
ENST00000553106 (MANE Select) 0.787
ENST00000307000 0.787
gnomAD v4:
chr12-102846904-C-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000089174
RCV000666332
ClinVar Variation:
102910
dbSNP:
199475615
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846904C>G , CM000674.2:g.102846904C>G GRCh38
NC_000012.11:g.103240682C>G , CM000674.1:g.103240682C>G GRCh37
NC_000012.10:g.101764812C>G NCBI36
NG_008690.1:g.75699G>C
NG_008690.2:g.116507G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.960G>C MANE Select ENSP00000448059.1:p.Lys320Asn
ENST00000307000.7:c.945G>C ENSP00000303500.2:p.Lys315Asn
ENST00000549247.6:n.719G>C
ENST00000551114.2:n.622G>C
ENST00000553106.5:c.960G>C ENSP00000448059.1:p.Lys320Asn
ENST00000635477.1:c.74-2473G>C
ENST00000635528.1:n.475G>C
NM_000277.1:c.960G>C NP_000268.1:p.Lys320Asn
XM_011538422.1:c.913-2473G>C XP_011536724.1:n.913-2473G>C
NM_000277.2:c.960G>C NP_000268.1:p.Lys320Asn
NM_001354304.1:c.960G>C NP_001341233.1:p.Lys320Asn
NM_000277.3:c.960G>C MANE Select NP_000268.1:p.Lys320Asn
NM_001354304.2:c.960G>C NP_001341233.1:p.Lys320Asn
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