Canonical Allele Identifier: CA229548
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102674
dbSNP Id: rs62508586

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877458T>C , CM000674.2:g.102877458T>C GRCh38
NC_000012.11:g.103271236T>C , CM000674.1:g.103271236T>C GRCh37
NC_000012.10:g.101795366T>C NCBI36
NG_008690.1:g.45145A>G
NG_008690.2:g.85953A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.441+4A>G MANE Select ENSP00000448059.1:n.441+4A>G
ENST00000307000.7:c.426+4A>G ENSP00000303500.2:n.426+4A>G
ENST00000549111.5:n.537+4A>G
ENST00000550978.6:c.429A>G
ENST00000551988.5:n.530+4A>G
ENST00000553106.5:c.441+4A>G ENSP00000448059.1:n.441+4A>G
NM_000277.1:c.441+4A>G NP_000268.1:n.441+4A>G
XM_011538422.1:c.441+4A>G XP_011536724.1:n.441+4A>G
NM_000277.2:c.441+4A>G NP_000268.1:n.441+4A>G
NM_001354304.1:c.441+4A>G NP_001341233.1:n.441+4A>G
XM_017019370.2:c.441+4A>G XP_016874859.1:n.441+4A>G
NM_000277.3:c.441+4A>G MANE Select NP_000268.1:n.441+4A>G
NM_001354304.2:c.441+4A>G NP_001341233.1:n.441+4A>G