Canonical Allele Identifier: CA242465521
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs369202247
gnomAD v3: 12-102846824-G-A
gnomAD v4: 12-102846824-G-A
MyVariant Identifiers: chr12:g.103240602G>A (hg19) chr12:g.102846824G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846824G>A , CM000674.2:g.102846824G>A GRCh38
NC_000012.11:g.103240602G>A , CM000674.1:g.103240602G>A GRCh37
NC_000012.10:g.101764732G>A NCBI36
NG_008690.1:g.75779C>T
NG_008690.2:g.116587C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+71C>T MANE Select ENSP00000448059.1:n.969+71C>T
ENST00000307000.7:c.954+71C>T ENSP00000303500.2:n.954+71C>T
ENST00000549247.6:n.728+71C>T
ENST00000551114.2:n.631+71C>T
ENST00000553106.5:c.969+71C>T ENSP00000448059.1:n.969+71C>T
ENST00000635477.1:c.74-2393C>T
ENST00000635528.1:n.484+71C>T
NM_000277.1:c.969+71C>T NP_000268.1:n.969+71C>T
XM_011538422.1:c.913-2393C>T XP_011536724.1:n.913-2393C>T
NM_000277.2:c.969+71C>T NP_000268.1:n.969+71C>T
NM_001354304.1:c.969+71C>T NP_001341233.1:n.969+71C>T
NM_000277.3:c.969+71C>T MANE Select NP_000268.1:n.969+71C>T
NM_001354304.2:c.969+71C>T NP_001341233.1:n.969+71C>T
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