Canonical Allele Identifier: CA242465544
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1010571410
gnomAD v4: 12-102846838-C-T
MyVariant Identifiers: chr12:g.103240616C>T (hg19) chr12:g.102846838C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846838C>T , CM000674.2:g.102846838C>T GRCh38
NC_000012.11:g.103240616C>T , CM000674.1:g.103240616C>T GRCh37
NC_000012.10:g.101764746C>T NCBI36
NG_008690.1:g.75765G>A
NG_008690.2:g.116573G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+57G>A MANE Select ENSP00000448059.1:n.969+57G>A
ENST00000307000.7:c.954+57G>A ENSP00000303500.2:n.954+57G>A
ENST00000549247.6:n.728+57G>A
ENST00000551114.2:n.631+57G>A
ENST00000553106.5:c.969+57G>A ENSP00000448059.1:n.969+57G>A
ENST00000635477.1:c.74-2407G>A
ENST00000635528.1:n.484+57G>A
NM_000277.1:c.969+57G>A NP_000268.1:n.969+57G>A
XM_011538422.1:c.913-2407G>A XP_011536724.1:n.913-2407G>A
NM_000277.2:c.969+57G>A NP_000268.1:n.969+57G>A
NM_001354304.1:c.969+57G>A NP_001341233.1:n.969+57G>A
NM_000277.3:c.969+57G>A MANE Select NP_000268.1:n.969+57G>A
NM_001354304.2:c.969+57G>A NP_001341233.1:n.969+57G>A
Search 100 bp 5'
Search 100 bp 3'