Canonical Allele Identifier: CA607154928
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1451123513
gnomAD v2: 12-103248611-A-AC
gnomAD v3: 12-102854833-A-AC
gnomAD v4: 12-102854833-A-AC
MyVariant Identifiers: chr12:g.103248611_103248612insC (hg19) chr12:g.102854833_102854834insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854833_102854834insC , CM000674.2:g.102854833_102854834insC GRCh38
NC_000012.11:g.103248611_103248612insC , CM000674.1:g.103248611_103248612insC GRCh37
NC_000012.10:g.101772741_101772742insC NCBI36
NG_008690.1:g.67769_67770insG
NG_008690.2:g.108577_108578insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+302_706+303insG MANE Select ENSP00000448059.1:n.706+302_706+303insG
ENST00000307000.7:c.691+302_691+303insG ENSP00000303500.2:n.691+302_691+303insG
ENST00000549111.5:n.1104_1105insG
ENST00000553106.5:c.706+302_706+303insG ENSP00000448059.1:n.706+302_706+303insG
NM_000277.1:c.706+302_706+303insG NP_000268.1:n.706+302_706+303insG
XM_011538422.1:c.706+302_706+303insG XP_011536724.1:n.706+302_706+303insG
NM_000277.2:c.706+302_706+303insG NP_000268.1:n.706+302_706+303insG
NM_001354304.1:c.706+302_706+303insG NP_001341233.1:n.706+302_706+303insG
XM_017019370.2:c.707-33_707-32insG XP_016874859.1:n.707-33_707-32insG
NM_000277.3:c.706+302_706+303insG MANE Select NP_000268.1:n.706+302_706+303insG
NM_001354304.2:c.706+302_706+303insG NP_001341233.1:n.706+302_706+303insG
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