Canonical Allele Identifier: CA242743370
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs559094553
gnomAD v3: 12-102840313-T-G
gnomAD v4: 12-102840313-T-G
MyVariant Identifiers: chr12:g.103234091T>G (hg19) chr12:g.102840313T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840313T>G , CM000674.2:g.102840313T>G GRCh38
NC_000012.11:g.103234091T>G , CM000674.1:g.103234091T>G GRCh37
NC_000012.10:g.101758221T>G NCBI36
NG_008690.1:g.82290A>C
NG_008690.2:g.123098A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+87A>C MANE Select ENSP00000448059.1:n.1315+87A>C
ENST00000307000.7:c.1300+87A>C ENSP00000303500.2:n.1300+87A>C
ENST00000551114.2:n.977+87A>C
ENST00000553106.5:c.1315+87A>C ENSP00000448059.1:n.1315+87A>C
ENST00000635477.1:c.419+87A>C
ENST00000635528.1:n.830+87A>C
NM_000277.1:c.1315+87A>C NP_000268.1:n.1315+87A>C
XM_011538422.1:c.1258+87A>C XP_011536724.1:n.1258+87A>C
NM_000277.2:c.1315+87A>C NP_000268.1:n.1315+87A>C
NM_001354304.1:c.1315+87A>C NP_001341233.1:n.1315+87A>C
NM_000277.3:c.1315+87A>C MANE Select NP_000268.1:n.1315+87A>C
NM_001354304.2:c.1315+87A>C NP_001341233.1:n.1315+87A>C
Search 100 bp 5'
Search 100 bp 3'