Canonical Allele Identifier: CA386302812
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103306672G>C (hg19) chr12:g.102912894G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912894G>C , CM000674.2:g.102912894G>C GRCh38
NC_000012.11:g.103306672G>C , CM000674.1:g.103306672G>C GRCh37
NC_000012.10:g.101830802G>C NCBI36
NG_008690.1:g.9709C>G
NG_008690.2:g.50517C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.65C>G MANE Select ENSP00000448059.1:p.Thr22Arg
ENST00000307000.7:c.50C>G ENSP00000303500.2:p.Thr17Arg
ENST00000546844.1:c.65C>G ENSP00000446658.1:p.Thr22Arg
ENST00000548677.2:n.152C>G
ENST00000549111.5:n.161C>G
ENST00000550978.6:c.49C>G
ENST00000551337.5:c.65C>G ENSP00000447620.1:p.Thr22Arg
ENST00000551988.5:n.154C>G
ENST00000553106.5:c.65C>G ENSP00000448059.1:p.Thr22Arg
ENST00000635500.1:n.33C>G
NM_000277.1:c.65C>G NP_000268.1:p.Thr22Arg
XM_011538422.1:c.65C>G XP_011536724.1:p.Thr22Arg
NM_000277.2:c.65C>G NP_000268.1:p.Thr22Arg
NM_001354304.1:c.65C>G NP_001341233.1:p.Thr22Arg
XM_017019370.2:c.65C>G XP_016874859.1:p.Thr22Arg
NM_000277.3:c.65C>G MANE Select NP_000268.1:p.Thr22Arg
NM_001354304.2:c.65C>G NP_001341233.1:p.Thr22Arg
Search 100 bp 5'
Search 100 bp 3'