Canonical Allele Identifier: CA951242359
Community Standard Title: NM_000277.3(PAH):c.1199+140C>T
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843506G>A , CM000674.2:g.102843506G>A GRCh38
NC_000012.11:g.103237284G>A , CM000674.1:g.103237284G>A GRCh37
NC_000012.10:g.101761414G>A NCBI36
NG_008690.1:g.79097C>T
NG_008690.2:g.119905C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1199+140C>T MANE Select NP_000268.1:n.1199+140C>T
ENST00000553106.6:c.1199+140C>T MANE Select ENSP00000448059.1:n.1199+140C>T
NM_000277.1:c.1199+140C>T NP_000268.1:n.1199+140C>T
NM_000277.2:c.1199+140C>T NP_000268.1:n.1199+140C>T
NM_001354304.1:c.1199+140C>T NP_001341233.1:n.1199+140C>T
NM_001354304.2:c.1199+140C>T NP_001341233.1:n.1199+140C>T
ENST00000307000.7:c.1184+140C>T ENSP00000303500.2:n.1184+140C>T
ENST00000549247.6:n.958+140C>T
ENST00000551114.2:n.861+140C>T
ENST00000553106.5:c.1199+140C>T ENSP00000448059.1:n.1199+140C>T
ENST00000635477.1:c.303+140C>T
ENST00000635528.1:n.714+140C>T
XM_011538422.1:c.1142+140C>T XP_011536724.1:n.1142+140C>T
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