Canonical Allele Identifier: CA251534
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 603
dbSNP Id: rs78655458

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852828A>C , CM000674.2:g.102852828A>C GRCh38
NC_000012.11:g.103246606A>C , CM000674.1:g.103246606A>C GRCh37
NC_000012.10:g.101770736A>C NCBI36
NG_008690.1:g.69775T>G
NG_008690.2:g.110583T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.829T>G MANE Select ENSP00000448059.1:p.Tyr277Asp
ENST00000307000.7:c.814T>G ENSP00000303500.2:p.Tyr272Asp
ENST00000549247.6:n.588T>G
ENST00000553106.5:c.829T>G ENSP00000448059.1:p.Tyr277Asp
NM_000277.1:c.829T>G NP_000268.1:p.Tyr277Asp
XM_011538422.1:c.829T>G XP_011536724.1:p.Tyr277Asp
NM_000277.2:c.829T>G NP_000268.1:p.Tyr277Asp
NM_001354304.1:c.829T>G NP_001341233.1:p.Tyr277Asp
NM_000277.3:c.829T>G MANE Select NP_000268.1:p.Tyr277Asp
NM_001354304.2:c.829T>G NP_001341233.1:p.Tyr277Asp