Canonical Allele Identifier: CA2059448925
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855088A= , CM000674.2:g.102855088A= GRCh38
NC_000012.11:g.103248866A= , CM000674.1:g.103248866A= GRCh37
NC_000012.10:g.101772996A= NCBI36
NG_008690.1:g.67515T=
NG_008690.2:g.108323T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+48T= MANE Select ENSP00000448059.1:n.706+48T=
ENST00000307000.7:c.691+48T= ENSP00000303500.2:n.691+48T=
ENST00000549111.5:n.850T=
ENST00000553106.5:c.706+48T= ENSP00000448059.1:n.706+48T=
NM_000277.1:c.706+48T= NP_000268.1:n.706+48T=
XM_011538422.1:c.706+48T= XP_011536724.1:n.706+48T=
NM_000277.2:c.706+48T= NP_000268.1:n.706+48T=
NM_001354304.1:c.706+48T= NP_001341233.1:n.706+48T=
XM_017019370.2:c.706+48T= XP_016874859.1:n.706+48T=
NM_000277.3:c.706+48T= MANE Select NP_000268.1:n.706+48T=
NM_001354304.2:c.706+48T= NP_001341233.1:n.706+48T=
Search 100 bp 5'
Search 100 bp 3'