Canonical Allele Identifier: CA607154271

Gene: PAH

Linked Data

• dbSNP Id: rs1403323670
• gnomAD v2: 12-103244840-CT-C
• gnomAD v3: 12-102851062-CT-C
• gnomAD v4: 12-102851062-CT-C
• MyVariant Identifiers: chr12:g.103244841del (hg19) ; chr12:g.102851063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851063del , CM000674.2:g.102851063del	GRCh38
NC_000012.11:g.103244841del , CM000674.1:g.103244841del	GRCh37
NC_000012.10:g.101768971del	NCBI36
NG_008690.1:g.71540del
NG_008690.2:g.112348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+624del MANE Select	ENSP00000448059.1:n.912+624del
ENST00000307000.7:c.897+624del	ENSP00000303500.2:n.897+624del
ENST00000549247.6:n.671+624del
ENST00000551114.2:n.574+624del
ENST00000553106.5:c.912+624del	ENSP00000448059.1:n.912+624del
ENST00000635477.1:c.73+624del
NM_000277.1:c.912+624del	NP_000268.1:n.912+624del
XM_011538422.1:c.912+624del	XP_011536724.1:n.912+624del
NM_000277.2:c.912+624del	NP_000268.1:n.912+624del
NM_001354304.1:c.912+624del	NP_001341233.1:n.912+624del
NM_000277.3:c.912+624del MANE Select	NP_000268.1:n.912+624del
NM_001354304.2:c.912+624del	NP_001341233.1:n.912+624del