Canonical Allele Identifier: CA386493240
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237487A>C (hg19) chr12:g.102843709A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843709A>C , CM000674.2:g.102843709A>C GRCh38
NC_000012.11:g.103237487A>C , CM000674.1:g.103237487A>C GRCh37
NC_000012.10:g.101761617A>C NCBI36
NG_008690.1:g.78894T>G
NG_008690.2:g.119702T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1136T>G MANE Select ENSP00000448059.1:p.Val379Gly
ENST00000307000.7:c.1121T>G ENSP00000303500.2:p.Val374Gly
ENST00000549247.6:n.895T>G
ENST00000551114.2:n.798T>G
ENST00000553106.5:c.1136T>G ENSP00000448059.1:p.Val379Gly
ENST00000635477.1:c.240T>G
ENST00000635528.1:n.651T>G
NM_000277.1:c.1136T>G NP_000268.1:p.Val379Gly
XM_011538422.1:c.1079T>G XP_011536724.1:p.Val360Gly
NM_000277.2:c.1136T>G NP_000268.1:p.Val379Gly
NM_001354304.1:c.1136T>G NP_001341233.1:p.Val379Gly
NM_000277.3:c.1136T>G MANE Select NP_000268.1:p.Val379Gly
NM_001354304.2:c.1136T>G NP_001341233.1:p.Val379Gly
Search 100 bp 5'
Search 100 bp 3'