Canonical Allele Identifier: CA6748851

Gene: PAH

Linked Data

• dbSNP Id: rs750797886
• ExAC: 12:103246743 A / ATGAGGTTTG
• MyVariant Identifiers: chr12:g.103246743_103246744insTGAGGTTTG (hg19) ; chr12:g.102852965_102852966insTGAGGTTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852965_102852966insTGAGGTTTG , CM000674.2:g.102852965_102852966insTGAGGTTTG	GRCh38
NC_000012.11:g.103246743_103246744insTGAGGTTTG , CM000674.1:g.103246743_103246744insTGAGGTTTG	GRCh37
NC_000012.10:g.101770873_101770874insTGAGGTTTG	NCBI36
NG_008690.1:g.69637_69638insCAAACCTCA
NG_008690.2:g.110445_110446insCAAACCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.707-16_707-15insCAAACCTCA MANE Select	ENSP00000448059.1:n.707-16_707-15insCAAACCTCA
ENST00000307000.7:c.692-16_692-15insCAAACCTCA	ENSP00000303500.2:n.692-16_692-15insCAAACCTCA
ENST00000549247.6:n.450_451insCAAACCTCA
ENST00000553106.5:c.707-16_707-15insCAAACCTCA	ENSP00000448059.1:n.707-16_707-15insCAAACCTCA
NM_000277.1:c.707-16_707-15insCAAACCTCA	NP_000268.1:n.707-16_707-15insCAAACCTCA
XM_011538422.1:c.707-16_707-15insCAAACCTCA	XP_011536724.1:n.707-16_707-15insCAAACCTCA
NM_000277.2:c.707-16_707-15insCAAACCTCA	NP_000268.1:n.707-16_707-15insCAAACCTCA
NM_001354304.1:c.707-16_707-15insCAAACCTCA	NP_001341233.1:n.707-16_707-15insCAAACCTCA
NM_000277.3:c.707-16_707-15insCAAACCTCA MANE Select	NP_000268.1:n.707-16_707-15insCAAACCTCA
NM_001354304.2:c.707-16_707-15insCAAACCTCA	NP_001341233.1:n.707-16_707-15insCAAACCTCA