Canonical Allele Identifier: CA655150942

Gene: PAH

Linked Data

• dbSNP Id: rs1044110591
• gnomAD v3: 12-102846786-AT-A
• gnomAD v4: 12-102846786-AT-A
• COSMIC: COSN509869 ; COSN22788824
• MyVariant Identifiers: chr12:g.103240565del (hg19) ; chr12:g.102846787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846793del , CM000674.2:g.102846793del	GRCh38
NC_000012.11:g.103240571del , CM000674.1:g.103240571del	GRCh37
NC_000012.10:g.101764701del	NCBI36
NG_008690.1:g.75816del
NG_008690.2:g.116624del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.969+108del MANE Select	ENSP00000448059.1:n.969+108del
ENST00000307000.7:c.954+108del	ENSP00000303500.2:n.954+108del
ENST00000549247.6:n.728+108del
ENST00000551114.2:n.631+108del
ENST00000553106.5:c.969+108del	ENSP00000448059.1:n.969+108del
ENST00000635477.1:c.74-2356del
ENST00000635528.1:n.484+108del
NM_000277.1:c.969+108del	NP_000268.1:n.969+108del
XM_011538422.1:c.913-2356del	XP_011536724.1:n.913-2356del
NM_000277.2:c.969+108del	NP_000268.1:n.969+108del
NM_001354304.1:c.969+108del	NP_001341233.1:n.969+108del
NM_000277.3:c.969+108del MANE Select	NP_000268.1:n.969+108del
NM_001354304.2:c.969+108del	NP_001341233.1:n.969+108del