Canonical Allele Identifier: CA6749049
Gene: PAH HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.102912894G>T
GRCh37 chr12:g.103306672G>T
Revel Score:
ENST00000553106 (MANE Select) 0.550
ENST00000307000 0.550
ENST00000551337 0.550
ENST00000546844 0.550
gnomAD v2:
12:103306672 G / T
gnomAD v3:
12:102912894 G / T
gnomAD v4:
chr12-102912894-G-T
Joint Max Group AF 0.00007111 (NFE)
Genomes Max Group AF 0.00007911 (NFE)
Exomes Max Group AF 0.00006696 (NFE)
ClinVar RCV:
RCV000664768
RCV002265840
ClinVar Variation:
550122
dbSNP:
199565868
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912894G>T , CM000674.2:g.102912894G>T GRCh38
NC_000012.11:g.103306672G>T , CM000674.1:g.103306672G>T GRCh37
NC_000012.10:g.101830802G>T NCBI36
NG_008690.1:g.9709C>A
NG_008690.2:g.50517C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.65C>A MANE Select ENSP00000448059.1:p.Thr22Lys
ENST00000307000.7:c.50C>A ENSP00000303500.2:p.Thr17Lys
ENST00000546844.1:c.65C>A ENSP00000446658.1:p.Thr22Lys
ENST00000548677.2:n.152C>A
ENST00000549111.5:n.161C>A
ENST00000550978.6:c.49C>A
ENST00000551337.5:c.65C>A ENSP00000447620.1:p.Thr22Lys
ENST00000551988.5:n.154C>A
ENST00000553106.5:c.65C>A ENSP00000448059.1:p.Thr22Lys
ENST00000635500.1:n.33C>A
NM_000277.1:c.65C>A NP_000268.1:p.Thr22Lys
XM_011538422.1:c.65C>A XP_011536724.1:p.Thr22Lys
NM_000277.2:c.65C>A NP_000268.1:p.Thr22Lys
NM_001354304.1:c.65C>A NP_001341233.1:p.Thr22Lys
XM_017019370.2:c.65C>A XP_016874859.1:p.Thr22Lys
NM_000277.3:c.65C>A MANE Select NP_000268.1:p.Thr22Lys
NM_001354304.2:c.65C>A NP_001341233.1:p.Thr22Lys
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