Canonical Allele Identifier: CA386295695
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM3359505
MyVariant Identifiers: chr12:g.103246684A>G (hg19) chr12:g.102852906A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852906A>G , CM000674.2:g.102852906A>G GRCh38
NC_000012.11:g.103246684A>G , CM000674.1:g.103246684A>G GRCh37
NC_000012.10:g.101770814A>G NCBI36
NG_008690.1:g.69697T>C
NG_008690.2:g.110505T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.751T>C MANE Select ENSP00000448059.1:p.Ser251Pro
ENST00000307000.7:c.736T>C ENSP00000303500.2:p.Ser246Pro
ENST00000549247.6:n.510T>C
ENST00000553106.5:c.751T>C ENSP00000448059.1:p.Ser251Pro
NM_000277.1:c.751T>C NP_000268.1:p.Ser251Pro
XM_011538422.1:c.751T>C XP_011536724.1:p.Ser251Pro
NM_000277.2:c.751T>C NP_000268.1:p.Ser251Pro
NM_001354304.1:c.751T>C NP_001341233.1:p.Ser251Pro
NM_000277.3:c.751T>C MANE Select NP_000268.1:p.Ser251Pro
NM_001354304.2:c.751T>C NP_001341233.1:p.Ser251Pro
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