Canonical Allele Identifier: CA229800

Gene: PAH

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

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