Canonical Allele Identifier: CA242744399
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs939625836
gnomAD v3: 12-102844249-T-C
gnomAD v4: 12-102844249-T-C
MyVariant Identifiers: chr12:g.103238027T>C (hg19) chr12:g.102844249T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844249T>C , CM000674.2:g.102844249T>C GRCh38
NC_000012.11:g.103238027T>C , CM000674.1:g.103238027T>C GRCh37
NC_000012.10:g.101762157T>C NCBI36
NG_008690.1:g.78354A>G
NG_008690.2:g.119162A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1065+87A>G MANE Select ENSP00000448059.1:n.1065+87A>G
ENST00000307000.7:c.1050+87A>G ENSP00000303500.2:n.1050+87A>G
ENST00000549247.6:n.824+87A>G
ENST00000551114.2:n.727+87A>G
ENST00000553106.5:c.1065+87A>G ENSP00000448059.1:n.1065+87A>G
ENST00000635477.1:c.169+87A>G
ENST00000635528.1:n.580+87A>G
NM_000277.1:c.1065+87A>G NP_000268.1:n.1065+87A>G
XM_011538422.1:c.1008+87A>G XP_011536724.1:n.1008+87A>G
NM_000277.2:c.1065+87A>G NP_000268.1:n.1065+87A>G
NM_001354304.1:c.1065+87A>G NP_001341233.1:n.1065+87A>G
NM_000277.3:c.1065+87A>G MANE Select NP_000268.1:n.1065+87A>G
NM_001354304.2:c.1065+87A>G NP_001341233.1:n.1065+87A>G
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