Canonical Allele Identifier: CA229366

Gene: PAH

Linked Data

• ClinVar Variation Id: 102541
• ClinVar RCV Id: RCV000088775 ; RCV001269277
• dbSNP Id: rs62516101
• MyVariant Identifiers: chr12:g.103237461C>G (hg19) ; chr12:g.102843683C>G (hg38)
• ERepo: CA229366/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843683C>G , CM000674.2:g.102843683C>G	GRCh38
NC_000012.11:g.103237461C>G , CM000674.1:g.103237461C>G	GRCh37
NC_000012.10:g.101761591C>G	NCBI36
NG_008690.1:g.78920G>C
NG_008690.2:g.119728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1162G>C MANE Select	ENSP00000448059.1:p.Val388Leu
ENST00000307000.7:c.1147G>C	ENSP00000303500.2:p.Val383Leu
ENST00000549247.6:n.921G>C
ENST00000551114.2:n.824G>C
ENST00000553106.5:c.1162G>C	ENSP00000448059.1:p.Val388Leu
ENST00000635477.1:c.266G>C
ENST00000635528.1:n.677G>C
NM_000277.1:c.1162G>C	NP_000268.1:p.Val388Leu
XM_011538422.1:c.1105G>C	XP_011536724.1:p.Val369Leu
NM_000277.2:c.1162G>C	NP_000268.1:p.Val388Leu
NM_001354304.1:c.1162G>C	NP_001341233.1:p.Val388Leu
NM_000277.3:c.1162G>C MANE Select	NP_000268.1:p.Val388Leu
NM_001354304.2:c.1162G>C	NP_001341233.1:p.Val388Leu