Canonical Allele Identifier: CA242473100
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs890609044
gnomAD v2: 12-103247902-C-G
MyVariant Identifiers: chr12:g.103247902C>G (hg19) chr12:g.102854124C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854124C>G , CM000674.2:g.102854124C>G GRCh38
NC_000012.11:g.103247902C>G , CM000674.1:g.103247902C>G GRCh37
NC_000012.10:g.101772032C>G NCBI36
NG_008690.1:g.68479G>C
NG_008690.2:g.109287G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+1012G>C MANE Select ENSP00000448059.1:n.706+1012G>C
ENST00000307000.7:c.691+1012G>C ENSP00000303500.2:n.691+1012G>C
ENST00000553106.5:c.706+1012G>C ENSP00000448059.1:n.706+1012G>C
NM_000277.1:c.706+1012G>C NP_000268.1:n.706+1012G>C
XM_011538422.1:c.706+1012G>C XP_011536724.1:n.706+1012G>C
NM_000277.2:c.706+1012G>C NP_000268.1:n.706+1012G>C
NM_001354304.1:c.706+1012G>C NP_001341233.1:n.706+1012G>C
XM_017019370.2:c.*661G>C XP_016874859.1:n.*661G>C
NM_000277.3:c.706+1012G>C MANE Select NP_000268.1:n.706+1012G>C
NM_001354304.2:c.706+1012G>C NP_001341233.1:n.706+1012G>C
Search 100 bp 5'
Search 100 bp 3'