Canonical Allele Identifier: CA386303924
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1384860249
gnomAD v2: 12-103288516-T-C
gnomAD v4: 12-102894738-T-C
MyVariant Identifiers: chr12:g.103288516T>C (hg19) chr12:g.102894738T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894738T>C , CM000674.2:g.102894738T>C GRCh38
NC_000012.11:g.103288516T>C , CM000674.1:g.103288516T>C GRCh37
NC_000012.10:g.101812646T>C NCBI36
NG_008690.1:g.27865A>G
NG_008690.2:g.68673A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.349A>G MANE Select ENSP00000448059.1:p.Thr117Ala
ENST00000307000.7:c.334A>G ENSP00000303500.2:p.Thr112Ala
ENST00000546844.1:c.349A>G ENSP00000446658.1:p.Thr117Ala
ENST00000548928.1:n.271A>G
ENST00000549111.5:n.445A>G
ENST00000550978.6:c.333A>G
ENST00000551337.5:c.349A>G ENSP00000447620.1:p.Thr117Ala
ENST00000551988.5:n.438A>G
ENST00000553106.5:c.349A>G ENSP00000448059.1:p.Thr117Ala
NM_000277.1:c.349A>G NP_000268.1:p.Thr117Ala
XM_011538422.1:c.349A>G XP_011536724.1:p.Thr117Ala
NM_000277.2:c.349A>G NP_000268.1:p.Thr117Ala
NM_001354304.1:c.349A>G NP_001341233.1:p.Thr117Ala
XM_017019370.2:c.349A>G XP_016874859.1:p.Thr117Ala
NM_000277.3:c.349A>G MANE Select NP_000268.1:p.Thr117Ala
NM_001354304.2:c.349A>G NP_001341233.1:p.Thr117Ala
Search 100 bp 5'
Search 100 bp 3'