Canonical Allele Identifier: CA229800
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102860
ClinVar RCV Id: RCV000089121 RCV000411640
dbSNP Id: rs62516155
ExAC: 12:103246605 T / C
gnomAD v2: 12-103246605-T-C
gnomAD v3: 12-102852827-T-C
gnomAD v4: 12-102852827-T-C
MyVariant Identifiers: chr12:g.103246605T>C (hg19) chr12:g.102852827T>C (hg38)
ERepo: CA229800/MONDO:0009861/006
PubMed: PMID:7741023 PMID:12126628 PMID:16601866 PMID:17924342 PMID:24350308 PMID:25952249 PMID:26655635
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852827T>C , CM000674.2:g.102852827T>C GRCh38
NC_000012.11:g.103246605T>C , CM000674.1:g.103246605T>C GRCh37
NC_000012.10:g.101770735T>C NCBI36
NG_008690.1:g.69776A>G
NG_008690.2:g.110584A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.830A>G MANE Select ENSP00000448059.1:p.Tyr277Cys
ENST00000307000.7:c.815A>G ENSP00000303500.2:p.Tyr272Cys
ENST00000549247.6:n.589A>G
ENST00000553106.5:c.830A>G ENSP00000448059.1:p.Tyr277Cys
NM_000277.1:c.830A>G NP_000268.1:p.Tyr277Cys
XM_011538422.1:c.830A>G XP_011536724.1:p.Tyr277Cys
NM_000277.2:c.830A>G NP_000268.1:p.Tyr277Cys
NM_001354304.1:c.830A>G NP_001341233.1:p.Tyr277Cys
NM_000277.3:c.830A>G MANE Select NP_000268.1:p.Tyr277Cys
NM_001354304.2:c.830A>G NP_001341233.1:p.Tyr277Cys
Search 100 bp 5'
Search 100 bp 3'