Canonical Allele Identifier: CA2601918488
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102894576-T-G
gnomAD v4: 12-102894576-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894576T>G , CM000674.2:g.102894576T>G GRCh38
NC_000012.11:g.103288354T>G , CM000674.1:g.103288354T>G GRCh37
NC_000012.10:g.101812484T>G NCBI36
NG_008690.1:g.28027A>C
NG_008690.2:g.68835A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+159A>C MANE Select ENSP00000448059.1:n.352+159A>C
ENST00000307000.7:c.337+159A>C ENSP00000303500.2:n.337+159A>C
ENST00000548928.1:n.274+159A>C
ENST00000549111.5:n.448+159A>C
ENST00000550978.6:c.336+159A>C
ENST00000551337.5:c.352+159A>C ENSP00000447620.1:n.352+159A>C
ENST00000551988.5:n.441+159A>C
ENST00000553106.5:c.352+159A>C ENSP00000448059.1:n.352+159A>C
NM_000277.1:c.352+159A>C NP_000268.1:n.352+159A>C
XM_011538422.1:c.352+159A>C XP_011536724.1:n.352+159A>C
NM_000277.2:c.352+159A>C NP_000268.1:n.352+159A>C
NM_001354304.1:c.352+159A>C NP_001341233.1:n.352+159A>C
XM_017019370.2:c.352+159A>C XP_016874859.1:n.352+159A>C
NM_000277.3:c.352+159A>C MANE Select NP_000268.1:n.352+159A>C
NM_001354304.2:c.352+159A>C NP_001341233.1:n.352+159A>C
Search 100 bp 5'
Search 100 bp 3'