Canonical Allele Identifier: CA481375325
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103234185G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840407G>C , CM000674.2:g.102840407G>C GRCh38
NC_000012.11:g.103234185G>C , CM000674.1:g.103234185G>C GRCh37
NC_000012.10:g.101758315G>C NCBI36
NG_008690.1:g.82196C>G
NG_008690.2:g.123004C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1308C>G MANE Select ENSP00000448059.1:p.Ser436=
ENST00000307000.7:c.1293C>G ENSP00000303500.2:p.Ser431=
ENST00000551114.2:n.970C>G
ENST00000553106.5:c.1308C>G ENSP00000448059.1:p.Ser436=
ENST00000635477.1:n.412C>G
ENST00000635528.1:n.823C>G
NM_000277.1:c.1308C>G NP_000268.1:p.Ser436=
XM_011538422.1:c.1251C>G XP_011536724.1:p.Ser417=
NM_000277.2:c.1308C>G NP_000268.1:p.Ser436=
NM_001354304.1:c.1308C>G NP_001341233.1:p.Ser436=
NM_000277.3:c.1308C>G MANE Select NP_000268.1:p.Ser436=
NM_001354304.2:c.1308C>G NP_001341233.1:p.Ser436=