Canonical Allele Identifier: CA229795
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102857
ClinVar RCV Id: RCV000089118 RCV000758121
dbSNP Id: rs62508722
MyVariant Identifiers: chr12:g.103246608A>T (hg19) chr12:g.102852830A>T (hg38)
ERepo: CA229795/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852830A>T , CM000674.2:g.102852830A>T GRCh38
NC_000012.11:g.103246608A>T , CM000674.1:g.103246608A>T GRCh37
NC_000012.10:g.101770738A>T NCBI36
NG_008690.1:g.69773T>A
NG_008690.2:g.110581T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.827T>A MANE Select ENSP00000448059.1:p.Met276Lys
ENST00000307000.7:c.812T>A ENSP00000303500.2:p.Met271Lys
ENST00000549247.6:n.586T>A
ENST00000553106.5:c.827T>A ENSP00000448059.1:p.Met276Lys
NM_000277.1:c.827T>A NP_000268.1:p.Met276Lys
XM_011538422.1:c.827T>A XP_011536724.1:p.Met276Lys
NM_000277.2:c.827T>A NP_000268.1:p.Met276Lys
NM_001354304.1:c.827T>A NP_001341233.1:p.Met276Lys
NM_000277.3:c.827T>A MANE Select NP_000268.1:p.Met276Lys
NM_001354304.2:c.827T>A NP_001341233.1:p.Met276Lys
Search 100 bp 5'
Search 100 bp 3'