Canonical Allele Identifier: CA386303909
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 585206
ClinVar RCV Id: RCV000709702
dbSNP Id: rs62514893
MyVariant Identifiers: chr12:g.103310906C>G (hg19) chr12:g.102917128C>G (hg38)
ERepo: CA386303909/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917128C>G , CM000674.2:g.102917128C>G GRCh38
NC_000012.11:g.103310906C>G , CM000674.1:g.103310906C>G GRCh37
NC_000012.10:g.101835036C>G NCBI36
NG_008690.1:g.5475G>C
NG_008690.2:g.46283G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.3G>C MANE Select ENSP00000448059.1:p.Met1Ile
ENST00000307000.7:c.-145G>C ENSP00000303500.2:n.-145G>C
ENST00000546844.1:c.3G>C ENSP00000446658.1:p.Met1Ile
ENST00000547319.1:n.314G>C
ENST00000549111.5:n.99G>C
ENST00000551337.5:c.3G>C ENSP00000447620.1:p.Met1Ile
ENST00000551988.5:n.92G>C
ENST00000553106.5:c.3G>C ENSP00000448059.1:p.Met1Ile
ENST00000635500.1:n.29-4230G>C
NM_000277.1:c.3G>C NP_000268.1:p.Met1Ile
XM_011538422.1:c.3G>C XP_011536724.1:p.Met1Ile
NM_000277.2:c.3G>C NP_000268.1:p.Met1Ile
NM_001354304.1:c.3G>C NP_001341233.1:p.Met1Ile
XM_017019370.2:c.3G>C XP_016874859.1:p.Met1Ile
NM_000277.3:c.3G>C MANE Select NP_000268.1:p.Met1Ile
NM_001354304.2:c.3G>C NP_001341233.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'