Canonical Allele Identifier: CA2620507333
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2692641
ClinVar RCV Id: RCV003495351
gnomAD v4: 12-102877446-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877446C>A , CM000674.2:g.102877446C>A GRCh38
NC_000012.11:g.103271224C>A , CM000674.1:g.103271224C>A GRCh37
NC_000012.10:g.101795354C>A NCBI36
NG_008690.1:g.45157G>T
NG_008690.2:g.85965G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+16G>T MANE Select ENSP00000448059.1:n.441+16G>T
ENST00000307000.7:c.426+16G>T ENSP00000303500.2:n.426+16G>T
ENST00000549111.5:n.537+16G>T
ENST00000550978.6:c.441G>T
ENST00000551988.5:n.530+16G>T
ENST00000553106.5:c.441+16G>T ENSP00000448059.1:n.441+16G>T
NM_000277.1:c.441+16G>T NP_000268.1:n.441+16G>T
XM_011538422.1:c.441+16G>T XP_011536724.1:n.441+16G>T
NM_000277.2:c.441+16G>T NP_000268.1:n.441+16G>T
NM_001354304.1:c.441+16G>T NP_001341233.1:n.441+16G>T
XM_017019370.2:c.441+16G>T XP_016874859.1:n.441+16G>T
NM_000277.3:c.441+16G>T MANE Select NP_000268.1:n.441+16G>T
NM_001354304.2:c.441+16G>T NP_001341233.1:n.441+16G>T
Search 100 bp 5'
Search 100 bp 3'