Canonical Allele Identifier: CA6045429

Gene: AHNAK

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62526444C>A , CM000673.2:g.62526444C>A	GRCh38
NC_000011.9:g.62293916C>A , CM000673.1:g.62293916C>A	GRCh37
NC_000011.8:g.62050492C>A	NCBI36
NG_051822.1:g.25417G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001620.3:c.7973G>T MANE Select	NP_001611.1:p.Gly2658Val
ENST00000378024.9:c.7973G>T MANE Select	ENSP00000367263.4:p.Gly2658Val
NM_001346445.1:c.7973G>T	NP_001333374.1:p.Gly2658Val
NM_001346445.2:c.7973G>T	NP_001333374.1:p.Gly2658Val
NM_001346446.1:c.7973G>T	NP_001333375.1:p.Gly2658Val
NM_001346446.2:c.7973G>T	NP_001333375.1:p.Gly2658Val
NM_001620.2:c.7973G>T	NP_001611.1:p.Gly2658Val
NM_024060.3:c.342+8559G>T	NP_076965.2:n.342+8559G>T
NM_024060.4:c.342+8559G>T	NP_076965.2:n.342+8559G>T
ENST00000257247.11:c.342+8559G>T	ENSP00000257247.7:n.342+8559G>T
ENST00000378024.8:c.7973G>T	ENSP00000367263.4:p.Gly2658Val
ENST00000530124.5:c.342+8559G>T	ENSP00000433789.1:n.342+8559G>T
ENST00000533365.5:c.342+8559G>T	ENSP00000433635.1:n.342+8559G>T
XM_005274240.1:c.7973G>T	XP_005274297.1:p.Gly2658Val
XM_005274241.1:c.7973G>T	XP_005274298.1:p.Gly2658Val
XM_005274242.1:c.7589G>T	XP_005274299.1:p.Gly2530Val
XM_005274243.1:c.7782+191G>T	XP_005274300.1:n.7782+191G>T
XM_005274244.1:c.7973G>T	XP_005274301.1:p.Gly2658Val
XM_005274245.1:c.7973G>T	XP_005274302.1:p.Gly2658Val
XM_011545249.1:c.7589G>T	XP_011543551.1:p.Gly2530Val
XM_011545250.1:c.7973G>T	XP_011543552.1:p.Gly2658Val
XM_017018270.1:c.7772G>T	XP_016873759.1:p.Gly2591Val