Canonical Allele Identifier: CA386304149
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103288627A>C (hg19) chr12:g.102894849A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894849A>C , CM000674.2:g.102894849A>C GRCh38
NC_000012.11:g.103288627A>C , CM000674.1:g.103288627A>C GRCh37
NC_000012.10:g.101812757A>C NCBI36
NG_008690.1:g.27754T>G
NG_008690.2:g.68562T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.238T>G MANE Select ENSP00000448059.1:p.Phe80Val
ENST00000307000.7:c.223T>G ENSP00000303500.2:p.Phe75Val
ENST00000546844.1:c.238T>G ENSP00000446658.1:p.Phe80Val
ENST00000548677.2:n.325T>G
ENST00000548928.1:n.160T>G
ENST00000549111.5:n.334T>G
ENST00000550978.6:c.222T>G
ENST00000551337.5:c.238T>G ENSP00000447620.1:p.Phe80Val
ENST00000551988.5:n.327T>G
ENST00000553106.5:c.238T>G ENSP00000448059.1:p.Phe80Val
NM_000277.1:c.238T>G NP_000268.1:p.Phe80Val
XM_011538422.1:c.238T>G XP_011536724.1:p.Phe80Val
NM_000277.2:c.238T>G NP_000268.1:p.Phe80Val
NM_001354304.1:c.238T>G NP_001341233.1:p.Phe80Val
XM_017019370.2:c.238T>G XP_016874859.1:p.Phe80Val
NM_000277.3:c.238T>G MANE Select NP_000268.1:p.Phe80Val
NM_001354304.2:c.238T>G NP_001341233.1:p.Phe80Val
Search 100 bp 5'
Search 100 bp 3'