Canonical Allele Identifier: CA481331343
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103246625T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852847T>C , CM000674.2:g.102852847T>C GRCh38
NC_000012.11:g.103246625T>C , CM000674.1:g.103246625T>C GRCh37
NC_000012.10:g.101770755T>C NCBI36
NG_008690.1:g.69756A>G
NG_008690.2:g.110564A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.810A>G MANE Select ENSP00000448059.1:p.Arg270=
ENST00000307000.7:c.795A>G ENSP00000303500.2:p.Arg265=
ENST00000549247.6:n.569A>G
ENST00000553106.5:c.810A>G ENSP00000448059.1:p.Arg270=
NM_000277.1:c.810A>G NP_000268.1:p.Arg270=
XM_011538422.1:c.810A>G XP_011536724.1:p.Arg270=
NM_000277.2:c.810A>G NP_000268.1:p.Arg270=
NM_001354304.1:c.810A>G NP_001341233.1:p.Arg270=
NM_000277.3:c.810A>G MANE Select NP_000268.1:p.Arg270=
NM_001354304.2:c.810A>G NP_001341233.1:p.Arg270=