Canonical Allele Identifier: CA607154300

Gene: PAH

Linked Data

• dbSNP Id: rs1170622633
• gnomAD v2: 12-103244911-TGAGC-T
• gnomAD v3: 12-102851133-TGAGC-T
• gnomAD v4: 12-102851133-TGAGC-T
• MyVariant Identifiers: chr12:g.103244912_103244915del (hg19) ; chr12:g.102851134_102851137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851134_102851137del , CM000674.2:g.102851134_102851137del	GRCh38
NC_000012.11:g.103244912_103244915del , CM000674.1:g.103244912_103244915del	GRCh37
NC_000012.10:g.101769042_101769045del	NCBI36
NG_008690.1:g.71466_71469del
NG_008690.2:g.112274_112277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+550_912+553del MANE Select	ENSP00000448059.1:n.912+550_912+553del
ENST00000307000.7:c.897+550_897+553del	ENSP00000303500.2:n.897+550_897+553del
ENST00000549247.6:n.671+550_671+553del
ENST00000551114.2:n.574+550_574+553del
ENST00000553106.5:c.912+550_912+553del	ENSP00000448059.1:n.912+550_912+553del
ENST00000635477.1:c.73+550_73+553del
NM_000277.1:c.912+550_912+553del	NP_000268.1:n.912+550_912+553del
XM_011538422.1:c.912+550_912+553del	XP_011536724.1:n.912+550_912+553del
NM_000277.2:c.912+550_912+553del	NP_000268.1:n.912+550_912+553del
NM_001354304.1:c.912+550_912+553del	NP_001341233.1:n.912+550_912+553del
NM_000277.3:c.912+550_912+553del MANE Select	NP_000268.1:n.912+550_912+553del
NM_001354304.2:c.912+550_912+553del	NP_001341233.1:n.912+550_912+553del