Canonical Allele Identifier: CA386493108
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1399587250
gnomAD v2: 12-103234288-A-G
gnomAD v4: 12-102840510-A-G
MyVariant Identifiers: chr12:g.103234288A>G (hg19) chr12:g.102840510A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840510A>G , CM000674.2:g.102840510A>G GRCh38
NC_000012.11:g.103234288A>G , CM000674.1:g.103234288A>G GRCh37
NC_000012.10:g.101758418A>G NCBI36
NG_008690.1:g.82093T>C
NG_008690.2:g.122901T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1205T>C MANE Select ENSP00000448059.1:p.Phe402Ser
ENST00000307000.7:c.1190T>C ENSP00000303500.2:p.Phe397Ser
ENST00000551114.2:n.867T>C
ENST00000553106.5:c.1205T>C ENSP00000448059.1:p.Phe402Ser
ENST00000635477.1:c.309T>C
ENST00000635528.1:n.720T>C
NM_000277.1:c.1205T>C NP_000268.1:p.Phe402Ser
XM_011538422.1:c.1148T>C XP_011536724.1:p.Phe383Ser
NM_000277.2:c.1205T>C NP_000268.1:p.Phe402Ser
NM_001354304.1:c.1205T>C NP_001341233.1:p.Phe402Ser
NM_000277.3:c.1205T>C MANE Select NP_000268.1:p.Phe402Ser
NM_001354304.2:c.1205T>C NP_001341233.1:p.Phe402Ser
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