Canonical Allele Identifier: CA386302479
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103306618G>C (hg19) chr12:g.102912840G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912840G>C , CM000674.2:g.102912840G>C GRCh38
NC_000012.11:g.103306618G>C , CM000674.1:g.103306618G>C GRCh37
NC_000012.10:g.101830748G>C NCBI36
NG_008690.1:g.9763C>G
NG_008690.2:g.50571C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.119C>G MANE Select ENSP00000448059.1:p.Ser40Ter
ENST00000307000.7:c.104C>G ENSP00000303500.2:p.Ser35Ter
ENST00000546844.1:c.119C>G ENSP00000446658.1:p.Ser40Ter
ENST00000548677.2:n.206C>G
ENST00000548928.1:n.41C>G
ENST00000549111.5:n.215C>G
ENST00000550978.6:c.103C>G
ENST00000551337.5:c.119C>G ENSP00000447620.1:p.Ser40Ter
ENST00000551988.5:n.208C>G
ENST00000553106.5:c.119C>G ENSP00000448059.1:p.Ser40Ter
ENST00000635500.1:n.87C>G
NM_000277.1:c.119C>G NP_000268.1:p.Ser40Ter
XM_011538422.1:c.119C>G XP_011536724.1:p.Ser40Ter
NM_000277.2:c.119C>G NP_000268.1:p.Ser40Ter
NM_001354304.1:c.119C>G NP_001341233.1:p.Ser40Ter
XM_017019370.2:c.119C>G XP_016874859.1:p.Ser40Ter
NM_000277.3:c.119C>G MANE Select NP_000268.1:p.Ser40Ter
NM_001354304.2:c.119C>G NP_001341233.1:p.Ser40Ter
Search 100 bp 5'
Search 100 bp 3'