Canonical Allele Identifier: CA386302214
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103271296C>T (hg19) chr12:g.102877518C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877518C>T , CM000674.2:g.102877518C>T GRCh38
NC_000012.11:g.103271296C>T , CM000674.1:g.103271296C>T GRCh37
NC_000012.10:g.101795426C>T NCBI36
NG_008690.1:g.45085G>A
NG_008690.2:g.85893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.385G>A MANE Select ENSP00000448059.1:p.Asp129Asn
ENST00000307000.7:c.370G>A ENSP00000303500.2:p.Asp124Asn
ENST00000549111.5:n.481G>A
ENST00000550978.6:c.369G>A
ENST00000551337.5:c.385G>A ENSP00000447620.1:p.Asp129Asn
ENST00000551988.5:n.474G>A
ENST00000553106.5:c.385G>A ENSP00000448059.1:p.Asp129Asn
NM_000277.1:c.385G>A NP_000268.1:p.Asp129Asn
XM_011538422.1:c.385G>A XP_011536724.1:p.Asp129Asn
NM_000277.2:c.385G>A NP_000268.1:p.Asp129Asn
NM_001354304.1:c.385G>A NP_001341233.1:p.Asp129Asn
XM_017019370.2:c.385G>A XP_016874859.1:p.Asp129Asn
NM_000277.3:c.385G>A MANE Select NP_000268.1:p.Asp129Asn
NM_001354304.2:c.385G>A NP_001341233.1:p.Asp129Asn
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