Canonical Allele Identifier: CA286508

Gene: PAH

Linked Data

• ClinVar Variation Id: 102850
• ClinVar RCV Id: RCV000089109 ; RCV000758132
• dbSNP Id: rs199475692
• ExAC: 12:103246623 T / C
• gnomAD v2: 12-103246623-T-C
• gnomAD v4: 12-102852845-T-C
• MyVariant Identifiers: chr12:g.103246623T>C (hg19) ; chr12:g.102852845T>C (hg38)
• ERepo: CA286508/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852845T>C , CM000674.2:g.102852845T>C	GRCh38
NC_000012.11:g.103246623T>C , CM000674.1:g.103246623T>C	GRCh37
NC_000012.10:g.101770753T>C	NCBI36
NG_008690.1:g.69758A>G
NG_008690.2:g.110566A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.812A>G MANE Select	ENSP00000448059.1:p.His271Arg
ENST00000307000.7:c.797A>G	ENSP00000303500.2:p.His266Arg
ENST00000549247.6:n.571A>G
ENST00000553106.5:c.812A>G	ENSP00000448059.1:p.His271Arg
NM_000277.1:c.812A>G	NP_000268.1:p.His271Arg
XM_011538422.1:c.812A>G	XP_011536724.1:p.His271Arg
NM_000277.2:c.812A>G	NP_000268.1:p.His271Arg
NM_001354304.1:c.812A>G	NP_001341233.1:p.His271Arg
NM_000277.3:c.812A>G MANE Select	NP_000268.1:p.His271Arg
NM_001354304.2:c.812A>G	NP_001341233.1:p.His271Arg