Canonical Allele Identifier: CA386302152
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1251581968
gnomAD v4: 12-102877490-T-C
MyVariant Identifiers: chr12:g.103271268T>C (hg19) chr12:g.102877490T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877490T>C , CM000674.2:g.102877490T>C GRCh38
NC_000012.11:g.103271268T>C , CM000674.1:g.103271268T>C GRCh37
NC_000012.10:g.101795398T>C NCBI36
NG_008690.1:g.45113A>G
NG_008690.2:g.85921A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.413A>G MANE Select ENSP00000448059.1:p.Tyr138Cys
ENST00000307000.7:c.398A>G ENSP00000303500.2:p.Tyr133Cys
ENST00000549111.5:n.509A>G
ENST00000550978.6:c.397A>G
ENST00000551988.5:n.502A>G
ENST00000553106.5:c.413A>G ENSP00000448059.1:p.Tyr138Cys
NM_000277.1:c.413A>G NP_000268.1:p.Tyr138Cys
XM_011538422.1:c.413A>G XP_011536724.1:p.Tyr138Cys
NM_000277.2:c.413A>G NP_000268.1:p.Tyr138Cys
NM_001354304.1:c.413A>G NP_001341233.1:p.Tyr138Cys
XM_017019370.2:c.413A>G XP_016874859.1:p.Tyr138Cys
NM_000277.3:c.413A>G MANE Select NP_000268.1:p.Tyr138Cys
NM_001354304.2:c.413A>G NP_001341233.1:p.Tyr138Cys
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