Canonical Allele Identifier: CA481330701
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103240682C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846904C>T , CM000674.2:g.102846904C>T GRCh38
NC_000012.11:g.103240682C>T , CM000674.1:g.103240682C>T GRCh37
NC_000012.10:g.101764812C>T NCBI36
NG_008690.1:g.75699G>A
NG_008690.2:g.116507G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.960G>A MANE Select ENSP00000448059.1:p.Lys320=
ENST00000307000.7:c.945G>A ENSP00000303500.2:p.Lys315=
ENST00000549247.6:n.719G>A
ENST00000551114.2:n.622G>A
ENST00000553106.5:c.960G>A ENSP00000448059.1:p.Lys320=
ENST00000635477.1:n.74-2473G>A
ENST00000635528.1:n.475G>A
NM_000277.1:c.960G>A NP_000268.1:p.Lys320=
XM_011538422.1:c.913-2473G>A XP_011536724.1:n.913-2473G>A
NM_000277.2:c.960G>A NP_000268.1:p.Lys320=
NM_001354304.1:c.960G>A NP_001341233.1:p.Lys320=
NM_000277.3:c.960G>A MANE Select NP_000268.1:p.Lys320=
NM_001354304.2:c.960G>A NP_001341233.1:p.Lys320=