Canonical Allele Identifier: CA229282

Gene: PAH

Linked Data

• ClinVar Variation Id: 102477
• ClinVar RCV Id: RCV000088708 ; RCV001194126
• dbSNP Id: rs62507265
• gnomAD v4: 12-102844373-T-C
• MyVariant Identifiers: chr12:g.103238151T>C (hg19) ; chr12:g.102844373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844373T>C , CM000674.2:g.102844373T>C	GRCh38
NC_000012.11:g.103238151T>C , CM000674.1:g.103238151T>C	GRCh37
NC_000012.10:g.101762281T>C	NCBI36
NG_008690.1:g.78230A>G
NG_008690.2:g.119038A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1028A>G MANE Select	ENSP00000448059.1:p.Tyr343Cys
ENST00000307000.7:c.1013A>G	ENSP00000303500.2:p.Tyr338Cys
ENST00000549247.6:n.787A>G
ENST00000551114.2:n.690A>G
ENST00000553106.5:c.1028A>G	ENSP00000448059.1:p.Tyr343Cys
ENST00000635477.1:c.132A>G
ENST00000635528.1:n.543A>G
NM_000277.1:c.1028A>G	NP_000268.1:p.Tyr343Cys
XM_011538422.1:c.971A>G	XP_011536724.1:p.Tyr324Cys
NM_000277.2:c.1028A>G	NP_000268.1:p.Tyr343Cys
NM_001354304.1:c.1028A>G	NP_001341233.1:p.Tyr343Cys
NM_000277.3:c.1028A>G MANE Select	NP_000268.1:p.Tyr343Cys
NM_001354304.2:c.1028A>G	NP_001341233.1:p.Tyr343Cys