Canonical Allele Identifier: CA2059462422

Gene: PAH

Linked Data

• dbSNP Id: rs1876614364

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877426_102877427insAGACTTTATTGT , CM000674.2:g.102877426_102877427insAGACTTTATTGT	GRCh38
NC_000012.11:g.103271204_103271205insAGACTTTATTGT , CM000674.1:g.103271204_103271205insAGACTTTATTGT	GRCh37
NC_000012.10:g.101795334_101795335insAGACTTTATTGT	NCBI36
NG_008690.1:g.45176_45177insACAATAAAGTCT
NG_008690.2:g.85984_85985insACAATAAAGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.441+35_441+36insACAATAAAGTCT MANE Select	ENSP00000448059.1:n.441+35_441+36insACAATAAAGTCT
ENST00000307000.7:c.426+35_426+36insACAATAAAGTCT	ENSP00000303500.2:n.426+35_426+36insACAATAAAGTCT
ENST00000549111.5:n.537+35_537+36insACAATAAAGTCT
ENST00000550978.6:c.460_461insACAATAAAGTCT
ENST00000551988.5:n.530+35_530+36insACAATAAAGTCT
ENST00000553106.5:c.441+35_441+36insACAATAAAGTCT	ENSP00000448059.1:n.441+35_441+36insACAATAAAGTCT
NM_000277.1:c.441+35_441+36insACAATAAAGTCT	NP_000268.1:n.441+35_441+36insACAATAAAGTCT
XM_011538422.1:c.441+35_441+36insACAATAAAGTCT	XP_011536724.1:n.441+35_441+36insACAATAAAGTCT
NM_000277.2:c.441+35_441+36insACAATAAAGTCT	NP_000268.1:n.441+35_441+36insACAATAAAGTCT
NM_001354304.1:c.441+35_441+36insACAATAAAGTCT	NP_001341233.1:n.441+35_441+36insACAATAAAGTCT
XM_017019370.2:c.441+35_441+36insACAATAAAGTCT	XP_016874859.1:n.441+35_441+36insACAATAAAGTCT
NM_000277.3:c.441+35_441+36insACAATAAAGTCT MANE Select	NP_000268.1:n.441+35_441+36insACAATAAAGTCT
NM_001354304.2:c.441+35_441+36insACAATAAAGTCT	NP_001341233.1:n.441+35_441+36insACAATAAAGTCT