Canonical Allele Identifier: CA2620517758
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854694-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854694G>C , CM000674.2:g.102854694G>C GRCh38
NC_000012.11:g.103248472G>C , CM000674.1:g.103248472G>C GRCh37
NC_000012.10:g.101772602G>C NCBI36
NG_008690.1:g.67909C>G
NG_008690.2:g.108717C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+442C>G MANE Select ENSP00000448059.1:n.706+442C>G
ENST00000307000.7:c.691+442C>G ENSP00000303500.2:n.691+442C>G
ENST00000549111.5:n.1244C>G
ENST00000553106.5:c.706+442C>G ENSP00000448059.1:n.706+442C>G
NM_000277.1:c.706+442C>G NP_000268.1:n.706+442C>G
XM_011538422.1:c.706+442C>G XP_011536724.1:n.706+442C>G
NM_000277.2:c.706+442C>G NP_000268.1:n.706+442C>G
NM_001354304.1:c.706+442C>G NP_001341233.1:n.706+442C>G
XM_017019370.2:c.*91C>G XP_016874859.1:n.*91C>G
NM_000277.3:c.706+442C>G MANE Select NP_000268.1:n.706+442C>G
NM_001354304.2:c.706+442C>G NP_001341233.1:n.706+442C>G
Search 100 bp 5'
Search 100 bp 3'