Canonical Allele Identifier: CA891843975

Gene: PAH

Linked Data

• ClinVar Variation Id: 580754
• ClinVar RCV Id: RCV000704392
• dbSNP Id: rs1565842203
• MyVariant Identifiers: chr12:g.103237470del (hg19) ; chr12:g.102843692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843695del , CM000674.2:g.102843695del	GRCh38
NC_000012.11:g.103237473del , CM000674.1:g.103237473del	GRCh37
NC_000012.10:g.101761603del	NCBI36
NG_008690.1:g.78911del
NG_008690.2:g.119719del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1153del MANE Select	ENSP00000448059.1:p.Leu385SerfsTer15
ENST00000307000.7:c.1138del	ENSP00000303500.2:p.Leu380SerfsTer15
ENST00000549247.6:n.912del
ENST00000551114.2:n.815del
ENST00000553106.5:c.1153del	ENSP00000448059.1:p.Leu385SerfsTer15
ENST00000635477.1:c.257del
ENST00000635528.1:n.668del
NM_000277.1:c.1153del	NP_000268.1:p.Leu385CysfsTer15
XM_011538422.1:c.1096del	XP_011536724.1:p.Leu366SerfsTer15
NM_000277.2:c.1153del	NP_000268.1:p.Leu385SerfsTer15
NM_001354304.1:c.1153del	NP_001341233.1:p.Leu385SerfsTer15
NM_000277.3:c.1153del MANE Select	NP_000268.1:p.Leu385SerfsTer15
NM_001354304.2:c.1153del	NP_001341233.1:p.Leu385SerfsTer15