Canonical Allele Identifier: CA682804704
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1367310674
MyVariant Identifiers: chr12:g.103246235A>C (hg19) chr12:g.102852457A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852457A>C , CM000674.2:g.102852457A>C GRCh38
NC_000012.11:g.103246235A>C , CM000674.1:g.103246235A>C GRCh37
NC_000012.10:g.101770365A>C NCBI36
NG_008690.1:g.70146T>G
NG_008690.2:g.110954T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842+358T>G MANE Select ENSP00000448059.1:n.842+358T>G
ENST00000307000.7:c.827+358T>G ENSP00000303500.2:n.827+358T>G
ENST00000549247.6:n.601+358T>G
ENST00000553106.5:c.842+358T>G ENSP00000448059.1:n.842+358T>G
ENST00000635477.1:c.3+358T>G
NM_000277.1:c.842+358T>G NP_000268.1:n.842+358T>G
XM_011538422.1:c.842+358T>G XP_011536724.1:n.842+358T>G
NM_000277.2:c.842+358T>G NP_000268.1:n.842+358T>G
NM_001354304.1:c.842+358T>G NP_001341233.1:n.842+358T>G
NM_000277.3:c.842+358T>G MANE Select NP_000268.1:n.842+358T>G
NM_001354304.2:c.842+358T>G NP_001341233.1:n.842+358T>G
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