Canonical Allele Identifier: CA386294546
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103246607C>G (hg19) chr12:g.102852829C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852829C>G , CM000674.2:g.102852829C>G GRCh38
NC_000012.11:g.103246607C>G , CM000674.1:g.103246607C>G GRCh37
NC_000012.10:g.101770737C>G NCBI36
NG_008690.1:g.69774G>C
NG_008690.2:g.110582G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.828G>C MANE Select ENSP00000448059.1:p.Met276Ile
ENST00000307000.7:c.813G>C ENSP00000303500.2:p.Met271Ile
ENST00000549247.6:n.587G>C
ENST00000553106.5:c.828G>C ENSP00000448059.1:p.Met276Ile
NM_000277.1:c.828G>C NP_000268.1:p.Met276Ile
XM_011538422.1:c.828G>C XP_011536724.1:p.Met276Ile
NM_000277.2:c.828G>C NP_000268.1:p.Met276Ile
NM_001354304.1:c.828G>C NP_001341233.1:p.Met276Ile
NM_000277.3:c.828G>C MANE Select NP_000268.1:p.Met276Ile
NM_001354304.2:c.828G>C NP_001341233.1:p.Met276Ile
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