Canonical Allele Identifier: CA229468
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102616
ClinVar RCV Id: RCV000088858 RCV000758114
dbSNP Id: rs199475672
MyVariant Identifiers: chr12:g.103288689T>C (hg19) chr12:g.102894911T>C (hg38)
ERepo: CA229468/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894911T>C , CM000674.2:g.102894911T>C GRCh38
NC_000012.11:g.103288689T>C , CM000674.1:g.103288689T>C GRCh37
NC_000012.10:g.101812819T>C NCBI36
NG_008690.1:g.27692A>G
NG_008690.2:g.68500A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.176A>G MANE Select ENSP00000448059.1:p.Asp59Gly
ENST00000307000.7:c.161A>G ENSP00000303500.2:p.Asp54Gly
ENST00000546844.1:c.176A>G ENSP00000446658.1:p.Asp59Gly
ENST00000548677.2:n.263A>G
ENST00000548928.1:n.98A>G
ENST00000549111.5:n.272A>G
ENST00000550978.6:c.160A>G
ENST00000551337.5:c.176A>G ENSP00000447620.1:p.Asp59Gly
ENST00000551988.5:n.265A>G
ENST00000553106.5:c.176A>G ENSP00000448059.1:p.Asp59Gly
ENST00000635500.1:n.144A>G
NM_000277.1:c.176A>G NP_000268.1:p.Asp59Gly
XM_011538422.1:c.176A>G XP_011536724.1:p.Asp59Gly
NM_000277.2:c.176A>G NP_000268.1:p.Asp59Gly
NM_001354304.1:c.176A>G NP_001341233.1:p.Asp59Gly
XM_017019370.2:c.176A>G XP_016874859.1:p.Asp59Gly
NM_000277.3:c.176A>G MANE Select NP_000268.1:p.Asp59Gly
NM_001354304.2:c.176A>G NP_001341233.1:p.Asp59Gly
Search 100 bp 5'
Search 100 bp 3'