Canonical Allele Identifier: CA386302217
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103271298A>G (hg19) chr12:g.102877520A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877520A>G , CM000674.2:g.102877520A>G GRCh38
NC_000012.11:g.103271298A>G , CM000674.1:g.103271298A>G GRCh37
NC_000012.10:g.101795428A>G NCBI36
NG_008690.1:g.45083T>C
NG_008690.2:g.85891T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.383T>C MANE Select ENSP00000448059.1:p.Leu128Pro
ENST00000307000.7:c.368T>C ENSP00000303500.2:p.Leu123Pro
ENST00000549111.5:n.479T>C
ENST00000550978.6:c.367T>C
ENST00000551337.5:c.383T>C ENSP00000447620.1:p.Leu128Pro
ENST00000551988.5:n.472T>C
ENST00000553106.5:c.383T>C ENSP00000448059.1:p.Leu128Pro
NM_000277.1:c.383T>C NP_000268.1:p.Leu128Pro
XM_011538422.1:c.383T>C XP_011536724.1:p.Leu128Pro
NM_000277.2:c.383T>C NP_000268.1:p.Leu128Pro
NM_001354304.1:c.383T>C NP_001341233.1:p.Leu128Pro
XM_017019370.2:c.383T>C XP_016874859.1:p.Leu128Pro
NM_000277.3:c.383T>C MANE Select NP_000268.1:p.Leu128Pro
NM_001354304.2:c.383T>C NP_001341233.1:p.Leu128Pro
Search 100 bp 5'
Search 100 bp 3'