Canonical Allele Identifier: CA2620514390
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852777T>C , CM000674.2:g.102852777T>C GRCh38
NC_000012.11:g.103246555T>C , CM000674.1:g.103246555T>C GRCh37
NC_000012.10:g.101770685T>C NCBI36
NG_008690.1:g.69826A>G
NG_008690.2:g.110634A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842+38A>G MANE Select ENSP00000448059.1:n.842+38A>G
ENST00000307000.7:c.827+38A>G ENSP00000303500.2:n.827+38A>G
ENST00000549247.6:n.601+38A>G
ENST00000553106.5:c.842+38A>G ENSP00000448059.1:n.842+38A>G
ENST00000635477.1:c.3+38A>G
NM_000277.1:c.842+38A>G NP_000268.1:n.842+38A>G
XM_011538422.1:c.842+38A>G XP_011536724.1:n.842+38A>G
NM_000277.2:c.842+38A>G NP_000268.1:n.842+38A>G
NM_001354304.1:c.842+38A>G NP_001341233.1:n.842+38A>G
NM_000277.3:c.842+38A>G MANE Select NP_000268.1:n.842+38A>G
NM_001354304.2:c.842+38A>G NP_001341233.1:n.842+38A>G