Canonical Allele Identifier: CA386299661
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103260428G>A (hg19) chr12:g.102866650G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866650G>A , CM000674.2:g.102866650G>A GRCh38
NC_000012.11:g.103260428G>A , CM000674.1:g.103260428G>A GRCh37
NC_000012.10:g.101784558G>A NCBI36
NG_008690.1:g.55953C>T
NG_008690.2:g.96761C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.455C>T MANE Select ENSP00000448059.1:p.Pro152Leu
ENST00000307000.7:c.440C>T ENSP00000303500.2:p.Pro147Leu
ENST00000549111.5:n.551C>T
ENST00000551988.5:n.530+10812C>T
ENST00000553106.5:c.455C>T ENSP00000448059.1:p.Pro152Leu
NM_000277.1:c.455C>T NP_000268.1:p.Pro152Leu
XM_011538422.1:c.455C>T XP_011536724.1:p.Pro152Leu
NM_000277.2:c.455C>T NP_000268.1:p.Pro152Leu
NM_001354304.1:c.455C>T NP_001341233.1:p.Pro152Leu
XM_017019370.2:c.455C>T XP_016874859.1:p.Pro152Leu
NM_000277.3:c.455C>T MANE Select NP_000268.1:p.Pro152Leu
NM_001354304.2:c.455C>T NP_001341233.1:p.Pro152Leu
Search 100 bp 5'
Search 100 bp 3'