Canonical Allele Identifier: CA682824864

Gene: PAH

Linked Data

• dbSNP Id: rs1339720356
• gnomAD v3: 12-102846764-AAATGT-A
• gnomAD v4: 12-102846764-AAATGT-A
• MyVariant Identifiers: chr12:g.103240543_103240547del (hg19) ; chr12:g.102846765_102846769del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846767_102846771del , CM000674.2:g.102846767_102846771del	GRCh38
NC_000012.11:g.103240545_103240549del , CM000674.1:g.103240545_103240549del	GRCh37
NC_000012.10:g.101764675_101764679del	NCBI36
NG_008690.1:g.75834_75838del
NG_008690.2:g.116642_116646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.969+126_969+130del MANE Select	ENSP00000448059.1:n.969+126_969+130del
ENST00000307000.7:c.954+126_954+130del	ENSP00000303500.2:n.954+126_954+130del
ENST00000549247.6:n.728+126_728+130del
ENST00000551114.2:n.631+126_631+130del
ENST00000553106.5:c.969+126_969+130del	ENSP00000448059.1:n.969+126_969+130del
ENST00000635477.1:c.74-2338_74-2334del
ENST00000635528.1:n.484+126_484+130del
NM_000277.1:c.969+126_969+130del	NP_000268.1:n.969+126_969+130del
XM_011538422.1:c.913-2338_913-2334del	XP_011536724.1:n.913-2338_913-2334del
NM_000277.2:c.969+126_969+130del	NP_000268.1:n.969+126_969+130del
NM_001354304.1:c.969+126_969+130del	NP_001341233.1:n.969+126_969+130del
NM_000277.3:c.969+126_969+130del MANE Select	NP_000268.1:n.969+126_969+130del
NM_001354304.2:c.969+126_969+130del	NP_001341233.1:n.969+126_969+130del