Canonical Allele Identifier: CA16020805

Gene: PAH

Linked Data

• ClinVar Variation Id: 1494029
• ClinVar RCV Id: RCV001986924 ; RCV003402026
• dbSNP Id: rs199475573
• gnomAD v4: 12-102866596-T-G
• MyVariant Identifiers: chr12:g.103260374T>G (hg19) ; chr12:g.102866596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866596T>G , CM000674.2:g.102866596T>G	GRCh38
NC_000012.11:g.103260374T>G , CM000674.1:g.103260374T>G	GRCh37
NC_000012.10:g.101784504T>G	NCBI36
NG_008690.1:g.56007A>C
NG_008690.2:g.96815A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.509A>C MANE Select	ENSP00000448059.1:p.His170Pro
ENST00000307000.7:c.494A>C	ENSP00000303500.2:p.His165Pro
ENST00000549111.5:n.605A>C
ENST00000551988.5:n.530+10866A>C
ENST00000553106.5:c.509A>C	ENSP00000448059.1:p.His170Pro
NM_000277.1:c.509A>C	NP_000268.1:p.His170Pro
XM_011538422.1:c.509A>C	XP_011536724.1:p.His170Pro
NM_000277.2:c.509A>C	NP_000268.1:p.His170Pro
NM_001354304.1:c.509A>C	NP_001341233.1:p.His170Pro
XM_017019370.2:c.509A>C	XP_016874859.1:p.His170Pro
NM_000277.3:c.509A>C MANE Select	NP_000268.1:p.His170Pro
NM_001354304.2:c.509A>C	NP_001341233.1:p.His170Pro