Canonical Allele Identifier: CA2575281430
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877368C>G , CM000674.2:g.102877368C>G GRCh38
NC_000012.11:g.103271146C>G , CM000674.1:g.103271146C>G GRCh37
NC_000012.10:g.101795276C>G NCBI36
NG_008690.1:g.45235G>C
NG_008690.2:g.86043G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.441+94G>C MANE Select ENSP00000448059.1:n.441+94G>C
ENST00000307000.7:c.426+94G>C ENSP00000303500.2:n.426+94G>C
ENST00000549111.5:n.537+94G>C
ENST00000550978.6:c.519G>C
ENST00000551988.5:n.530+94G>C
ENST00000553106.5:c.441+94G>C ENSP00000448059.1:n.441+94G>C
NM_000277.1:c.441+94G>C NP_000268.1:n.441+94G>C
XM_011538422.1:c.441+94G>C XP_011536724.1:n.441+94G>C
NM_000277.2:c.441+94G>C NP_000268.1:n.441+94G>C
NM_001354304.1:c.441+94G>C NP_001341233.1:n.441+94G>C
XM_017019370.2:c.441+94G>C XP_016874859.1:n.441+94G>C
NM_000277.3:c.441+94G>C MANE Select NP_000268.1:n.441+94G>C
NM_001354304.2:c.441+94G>C NP_001341233.1:n.441+94G>C
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