Canonical Allele Identifier: CA229403

Gene: PAH

Linked Data

• ClinVar Variation Id: 102570
• ClinVar RCV Id: RCV000088805
• dbSNP Id: rs62644489
• MyVariant Identifiers: chr12:g.103234273del (hg19) ; chr12:g.102840495del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840496del , CM000674.2:g.102840496del	GRCh38
NC_000012.11:g.103234274del , CM000674.1:g.103234274del	GRCh37
NC_000012.10:g.101758404del	NCBI36
NG_008690.1:g.82108del
NG_008690.2:g.122916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1220del MANE Select	ENSP00000448059.1:p.Pro407LeufsTer?
ENST00000307000.7:c.1205del	ENSP00000303500.2:p.Pro402LeufsTer?
ENST00000551114.2:n.882del
ENST00000553106.5:c.1220del	ENSP00000448059.1:p.Pro407LeufsTer?
ENST00000635477.1:c.324del
ENST00000635528.1:n.735del
NM_000277.1:c.1220del	NP_000268.1:p.Pro407LeufsTer?
XM_011538422.1:c.1163del	XP_011536724.1:p.Pro388LeufsTer?
NM_000277.2:c.1220del	NP_000268.1:p.Pro407LeufsTer?
NM_001354304.1:c.1220del	NP_001341233.1:p.Pro407LeufsTer?
NM_000277.3:c.1220del MANE Select	NP_000268.1:p.Pro407LeufsTer?
NM_001354304.2:c.1220del	NP_001341233.1:p.Pro407LeufsTer?