Canonical Allele Identifier: CA16020849

Gene: PAH

Linked Data

• ClinVar Variation Id: 1065372
• ClinVar RCV Id: RCV001375886
• dbSNP Id: rs2136646337
• ERepo: CA16020849/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852918del , CM000674.2:g.102852918del	GRCh38
NC_000012.11:g.103246696del , CM000674.1:g.103246696del	GRCh37
NC_000012.10:g.101770826del	NCBI36
NG_008690.1:g.69686del
NG_008690.2:g.110494del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.740del MANE Select	ENSP00000448059.1:p.Gly247AlafsTer?
ENST00000307000.7:c.725del	ENSP00000303500.2:p.Gly242AlafsTer?
ENST00000549247.6:n.499del
ENST00000553106.5:c.740del	ENSP00000448059.1:p.Gly247AlafsTer?
NM_000277.1:c.740del	NP_000268.1:p.Gly247AlafsTer?
XM_011538422.1:c.740del	XP_011536724.1:p.Gly247AlafsTer?
NM_000277.2:c.740del	NP_000268.1:p.Gly247AlafsTer?
NM_001354304.1:c.740del	NP_001341233.1:p.Gly247AlafsTer?
NM_000277.3:c.740del MANE Select	NP_000268.1:p.Gly247AlafsTer?
NM_001354304.2:c.740del	NP_001341233.1:p.Gly247AlafsTer?