Canonical Allele Identifier: CA6696999

Gene: NAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.78006576C>G , CM000674.2:g.78006576C>G	GRCh38
NC_000012.11:g.78400356C>G , CM000674.1:g.78400356C>G	GRCh37
NC_000012.10:g.76924487C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397909.7:c.1038C>G MANE Select	ENSP00000381007.2:p.Thr346=
ENST00000550042.2:c.867C>G	ENSP00000489639.1:p.Thr289=
ENST00000397909.6:c.1038C>G	ENSP00000381007.2:p.Thr346=
ENST00000536525.6:c.1038C>G	ENSP00000446132.2:p.Thr346=
ENST00000547725.1:n.450C>G
ENST00000549464.5:c.1038C>G	ENSP00000446628.1:p.Thr346=
ENST00000550503.1:c.508C>G
NM_001024383.1:c.1038C>G	NP_001019554.1:p.Thr346=
NM_014903.5:c.1038C>G	NP_055718.4:p.Thr346=
XM_005269215.2:c.1038C>G	XP_005269272.1:p.Thr346=
XM_006719675.2:c.969C>G	XP_006719738.1:p.Thr323=
XM_011538940.1:c.1038C>G	XP_011537242.1:p.Thr346=
XM_011538941.1:c.1038C>G	XP_011537243.1:p.Thr346=
XM_011538942.1:c.867C>G	XP_011537244.1:p.Thr289=
XM_011538943.1:c.1038C>G	XP_011537245.1:p.Thr346=
XM_011538944.1:c.1038C>G	XP_011537246.1:p.Thr346=
XM_011538945.1:c.309C>G	XP_011537247.1:p.Thr103=
XM_005269215.4:c.1038C>G	XP_005269272.1:p.Thr346=
XM_011538940.2:c.1038C>G	XP_011537242.1:p.Thr346=
XM_011538941.2:c.1038C>G	XP_011537243.1:p.Thr346=
XM_011538944.3:c.1038C>G	XP_011537246.1:p.Thr346=
XM_017020164.2:c.1038C>G	XP_016875653.1:p.Thr346=
XM_017020165.1:c.1038C>G	XP_016875654.1:p.Thr346=
XM_017020166.2:c.867C>G	XP_016875655.1:p.Thr289=
XM_017020167.1:c.798C>G	XP_016875656.1:p.Thr266=
XM_017020168.1:c.1038C>G	XP_016875657.1:p.Thr346=
XM_017020169.2:c.1038C>G	XP_016875658.1:p.Thr346=
XM_017020170.1:c.1038C>G	XP_016875659.1:p.Thr346=
NM_001024383.2:c.1038C>G MANE Select	NP_001019554.1:p.Thr346=
NM_014903.6:c.1038C>G	NP_055718.4:p.Thr346=