Canonical Allele Identifier: CA267682

Gene: PAH

Linked Data

• ClinVar Variation Id: 120291
• ClinVar RCV Id: RCV000106372
• dbSNP Id: rs281865446
• gnomAD v4: 12-102851712-T-C
• MyVariant Identifiers: chr12:g.103245490T>C (hg19) ; chr12:g.102851712T>C (hg38)
• ERepo: CA267682/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851712T>C , CM000674.2:g.102851712T>C	GRCh38
NC_000012.11:g.103245490T>C , CM000674.1:g.103245490T>C	GRCh37
NC_000012.10:g.101769620T>C	NCBI36
NG_008690.1:g.70891A>G
NG_008690.2:g.111699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.887A>G MANE Select	ENSP00000448059.1:p.Asp296Gly
ENST00000307000.7:c.872A>G	ENSP00000303500.2:p.Asp291Gly
ENST00000549247.6:n.646A>G
ENST00000551114.2:n.549A>G
ENST00000553106.5:c.887A>G	ENSP00000448059.1:p.Asp296Gly
ENST00000635477.1:c.48A>G
NM_000277.1:c.887A>G	NP_000268.1:p.Asp296Gly
XM_011538422.1:c.887A>G	XP_011536724.1:p.Asp296Gly
NM_000277.2:c.887A>G	NP_000268.1:p.Asp296Gly
NM_001354304.1:c.887A>G	NP_001341233.1:p.Asp296Gly
NM_000277.3:c.887A>G MANE Select	NP_000268.1:p.Asp296Gly
NM_001354304.2:c.887A>G	NP_001341233.1:p.Asp296Gly