Canonical Allele Identifier: CA951234795

Gene: PAH

Linked Data

• dbSNP Id: rs2075292564
• gnomAD v3: 12-102851468-CAT-C
• gnomAD v4: 12-102851468-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851471_102851472del , CM000674.2:g.102851471_102851472del	GRCh38
NC_000012.11:g.103245249_103245250del , CM000674.1:g.103245249_103245250del	GRCh37
NC_000012.10:g.101769379_101769380del	NCBI36
NG_008690.1:g.71133_71134del
NG_008690.2:g.111941_111942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+217_912+218del MANE Select	ENSP00000448059.1:n.912+217_912+218del
ENST00000307000.7:c.897+217_897+218del	ENSP00000303500.2:n.897+217_897+218del
ENST00000549247.6:n.671+217_671+218del
ENST00000551114.2:n.574+217_574+218del
ENST00000553106.5:c.912+217_912+218del	ENSP00000448059.1:n.912+217_912+218del
ENST00000635477.1:c.73+217_73+218del
NM_000277.1:c.912+217_912+218del	NP_000268.1:n.912+217_912+218del
XM_011538422.1:c.912+217_912+218del	XP_011536724.1:n.912+217_912+218del
NM_000277.2:c.912+217_912+218del	NP_000268.1:n.912+217_912+218del
NM_001354304.1:c.912+217_912+218del	NP_001341233.1:n.912+217_912+218del
NM_000277.3:c.912+217_912+218del MANE Select	NP_000268.1:n.912+217_912+218del
NM_001354304.2:c.912+217_912+218del	NP_001341233.1:n.912+217_912+218del