Canonical Allele Identifier: CA6748708

Gene: PAH

Linked Data

• ClinVar Variation Id: 552907
• ClinVar RCV Id: RCV000668256 ; RCV000985880
• dbSNP Id: rs773526027
• ExAC: 12:103234275 T / C
• gnomAD v2: 12-103234275-T-C
• gnomAD v3: 12-102840497-T-C
• gnomAD v4: 12-102840497-T-C
• MyVariant Identifiers: chr12:g.103234275T>C (hg19) ; chr12:g.102840497T>C (hg38)
• ERepo: CA6748708/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840497T>C , CM000674.2:g.102840497T>C	GRCh38
NC_000012.11:g.103234275T>C , CM000674.1:g.103234275T>C	GRCh37
NC_000012.10:g.101758405T>C	NCBI36
NG_008690.1:g.82106A>G
NG_008690.2:g.122914A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1218A>G MANE Select	ENSP00000448059.1:p.Ile406Met
ENST00000307000.7:c.1203A>G	ENSP00000303500.2:p.Ile401Met
ENST00000551114.2:n.880A>G
ENST00000553106.5:c.1218A>G	ENSP00000448059.1:p.Ile406Met
ENST00000635477.1:c.322A>G
ENST00000635528.1:n.733A>G
NM_000277.1:c.1218A>G	NP_000268.1:p.Ile406Met
XM_011538422.1:c.1161A>G	XP_011536724.1:p.Ile387Met
NM_000277.2:c.1218A>G	NP_000268.1:p.Ile406Met
NM_001354304.1:c.1218A>G	NP_001341233.1:p.Ile406Met
NM_000277.3:c.1218A>G MANE Select	NP_000268.1:p.Ile406Met
NM_001354304.2:c.1218A>G	NP_001341233.1:p.Ile406Met