Canonical Allele Identifier: CA386304132
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103288618A>T (hg19) chr12:g.102894840A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894840A>T , CM000674.2:g.102894840A>T GRCh38
NC_000012.11:g.103288618A>T , CM000674.1:g.103288618A>T GRCh37
NC_000012.10:g.101812748A>T NCBI36
NG_008690.1:g.27763T>A
NG_008690.2:g.68571T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.247T>A MANE Select ENSP00000448059.1:p.Leu83Met
ENST00000307000.7:c.232T>A ENSP00000303500.2:p.Leu78Met
ENST00000546844.1:c.247T>A ENSP00000446658.1:p.Leu83Met
ENST00000548677.2:n.334T>A
ENST00000548928.1:n.169T>A
ENST00000549111.5:n.343T>A
ENST00000550978.6:c.231T>A
ENST00000551337.5:c.247T>A ENSP00000447620.1:p.Leu83Met
ENST00000551988.5:n.336T>A
ENST00000553106.5:c.247T>A ENSP00000448059.1:p.Leu83Met
NM_000277.1:c.247T>A NP_000268.1:p.Leu83Met
XM_011538422.1:c.247T>A XP_011536724.1:p.Leu83Met
NM_000277.2:c.247T>A NP_000268.1:p.Leu83Met
NM_001354304.1:c.247T>A NP_001341233.1:p.Leu83Met
XM_017019370.2:c.247T>A XP_016874859.1:p.Leu83Met
NM_000277.3:c.247T>A MANE Select NP_000268.1:p.Leu83Met
NM_001354304.2:c.247T>A NP_001341233.1:p.Leu83Met
Search 100 bp 5'
Search 100 bp 3'