Canonical Allele Identifier: CA229669
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102769
dbSNP Id: rs62509013

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855194G>C , CM000674.2:g.102855194G>C GRCh38
NC_000012.11:g.103248972G>C , CM000674.1:g.103248972G>C GRCh37
NC_000012.10:g.101773102G>C NCBI36
NG_008690.1:g.67409C>G
NG_008690.2:g.108217C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.648C>G MANE Select ENSP00000448059.1:p.Tyr216Ter
ENST00000307000.7:c.633C>G ENSP00000303500.2:p.Tyr211Ter
ENST00000549111.5:n.744C>G
ENST00000553106.5:c.648C>G ENSP00000448059.1:p.Tyr216Ter
NM_000277.1:c.648C>G NP_000268.1:p.Tyr216Ter
XM_011538422.1:c.648C>G XP_011536724.1:p.Tyr216Ter
NM_000277.2:c.648C>G NP_000268.1:p.Tyr216Ter
NM_001354304.1:c.648C>G NP_001341233.1:p.Tyr216Ter
XM_017019370.2:c.648C>G XP_016874859.1:p.Tyr216Ter
NM_000277.3:c.648C>G MANE Select NP_000268.1:p.Tyr216Ter
NM_001354304.2:c.648C>G NP_001341233.1:p.Tyr216Ter