Canonical Allele Identifier: CA386493348
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237548A>C (hg19) chr12:g.102843770A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843770A>C , CM000674.2:g.102843770A>C GRCh38
NC_000012.11:g.103237548A>C , CM000674.1:g.103237548A>C GRCh37
NC_000012.10:g.101761678A>C NCBI36
NG_008690.1:g.78833T>G
NG_008690.2:g.119641T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1075T>G MANE Select ENSP00000448059.1:p.Ser359Ala
ENST00000307000.7:c.1060T>G ENSP00000303500.2:p.Ser354Ala
ENST00000549247.6:n.834T>G
ENST00000551114.2:n.737T>G
ENST00000553106.5:c.1075T>G ENSP00000448059.1:p.Ser359Ala
ENST00000635477.1:c.179T>G
ENST00000635528.1:n.590T>G
NM_000277.1:c.1075T>G NP_000268.1:p.Ser359Ala
XM_011538422.1:c.1018T>G XP_011536724.1:p.Ser340Ala
NM_000277.2:c.1075T>G NP_000268.1:p.Ser359Ala
NM_001354304.1:c.1075T>G NP_001341233.1:p.Ser359Ala
NM_000277.3:c.1075T>G MANE Select NP_000268.1:p.Ser359Ala
NM_001354304.2:c.1075T>G NP_001341233.1:p.Ser359Ala
Search 100 bp 5'
Search 100 bp 3'