Canonical Allele Identifier: CA2620507376
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102877457-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877457C>G , CM000674.2:g.102877457C>G GRCh38
NC_000012.11:g.103271235C>G , CM000674.1:g.103271235C>G GRCh37
NC_000012.10:g.101795365C>G NCBI36
NG_008690.1:g.45146G>C
NG_008690.2:g.85954G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.441+5G>C MANE Select ENSP00000448059.1:n.441+5G>C
ENST00000307000.7:c.426+5G>C ENSP00000303500.2:n.426+5G>C
ENST00000549111.5:n.537+5G>C
ENST00000550978.6:c.430G>C
ENST00000551988.5:n.530+5G>C
ENST00000553106.5:c.441+5G>C ENSP00000448059.1:n.441+5G>C
NM_000277.1:c.441+5G>C NP_000268.1:n.441+5G>C
XM_011538422.1:c.441+5G>C XP_011536724.1:n.441+5G>C
NM_000277.2:c.441+5G>C NP_000268.1:n.441+5G>C
NM_001354304.1:c.441+5G>C NP_001341233.1:n.441+5G>C
XM_017019370.2:c.441+5G>C XP_016874859.1:n.441+5G>C
NM_000277.3:c.441+5G>C MANE Select NP_000268.1:n.441+5G>C
NM_001354304.2:c.441+5G>C NP_001341233.1:n.441+5G>C
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