Canonical Allele Identifier: CA242473567
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs144406148
gnomAD v3: 12-102854731-C-G
gnomAD v4: 12-102854731-C-G
MyVariant Identifiers: chr12:g.103248509C>G (hg19) chr12:g.102854731C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854731C>G , CM000674.2:g.102854731C>G GRCh38
NC_000012.11:g.103248509C>G , CM000674.1:g.103248509C>G GRCh37
NC_000012.10:g.101772639C>G NCBI36
NG_008690.1:g.67872G>C
NG_008690.2:g.108680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+405G>C MANE Select ENSP00000448059.1:n.706+405G>C
ENST00000307000.7:c.691+405G>C ENSP00000303500.2:n.691+405G>C
ENST00000549111.5:n.1207G>C
ENST00000553106.5:c.706+405G>C ENSP00000448059.1:n.706+405G>C
NM_000277.1:c.706+405G>C NP_000268.1:n.706+405G>C
XM_011538422.1:c.706+405G>C XP_011536724.1:n.706+405G>C
NM_000277.2:c.706+405G>C NP_000268.1:n.706+405G>C
NM_001354304.1:c.706+405G>C NP_001341233.1:n.706+405G>C
XM_017019370.2:c.*54G>C XP_016874859.1:n.*54G>C
NM_000277.3:c.706+405G>C MANE Select NP_000268.1:n.706+405G>C
NM_001354304.2:c.706+405G>C NP_001341233.1:n.706+405G>C
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