Canonical Allele Identifier: CA481375782
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103238183C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844405C>A , CM000674.2:g.102844405C>A GRCh38
NC_000012.11:g.103238183C>A , CM000674.1:g.103238183C>A GRCh37
NC_000012.10:g.101762313C>A NCBI36
NG_008690.1:g.78198G>T
NG_008690.2:g.119006G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.996G>T MANE Select ENSP00000448059.1:p.Gly332=
ENST00000307000.7:c.981G>T ENSP00000303500.2:p.Gly327=
ENST00000549247.6:n.755G>T
ENST00000551114.2:n.658G>T
ENST00000553106.5:c.996G>T ENSP00000448059.1:p.Gly332=
ENST00000635477.1:c.100G>T
ENST00000635528.1:n.511G>T
NM_000277.1:c.996G>T NP_000268.1:p.Gly332=
XM_011538422.1:c.939G>T XP_011536724.1:p.Gly313=
NM_000277.2:c.996G>T NP_000268.1:p.Gly332=
NM_001354304.1:c.996G>T NP_001341233.1:p.Gly332=
NM_000277.3:c.996G>T MANE Select NP_000268.1:p.Gly332=
NM_001354304.2:c.996G>T NP_001341233.1:p.Gly332=
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