Canonical Allele Identifier: CA6697836

Gene: NAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.78137211C>T , CM000674.2:g.78137211C>T	GRCh38
NC_000012.11:g.78530991C>T , CM000674.1:g.78530991C>T	GRCh37
NC_000012.10:g.77055122C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397909.7:c.4476C>T MANE Select	ENSP00000381007.2:p.Pro1492=
ENST00000644176.1:c.2934C>T	ENSP00000495503.1:p.Pro978=
ENST00000397909.6:c.4476C>T	ENSP00000381007.2:p.Pro1492=
ENST00000536525.6:c.4476C>T	ENSP00000446132.2:p.Pro1492=
ENST00000550788.1:c.363C>T	ENSP00000448303.1:p.Pro121=
ENST00000552895.5:c.1159C>T
NM_001024383.1:c.4476C>T	NP_001019554.1:p.Pro1492=
NM_014903.5:c.4476C>T	NP_055718.4:p.Pro1492=
XM_005269215.2:c.4476C>T	XP_005269272.1:p.Pro1492=
XM_006719675.2:c.4407C>T	XP_006719738.1:p.Pro1469=
XM_006719677.2:c.2976C>T	XP_006719740.1:p.Pro992=
XM_011538940.1:c.4434C>T	XP_011537242.1:p.Pro1478=
XM_011538941.1:c.4434C>T	XP_011537243.1:p.Pro1478=
XM_011538942.1:c.4305C>T	XP_011537244.1:p.Pro1435=
XM_011538943.1:c.3987C>T	XP_011537245.1:p.Pro1329=
XM_011538944.1:c.3945C>T	XP_011537246.1:p.Pro1315=
XM_011538945.1:c.3747C>T	XP_011537247.1:p.Pro1249=
XM_005269215.4:c.4476C>T	XP_005269272.1:p.Pro1492=
XM_011538940.2:c.4434C>T	XP_011537242.1:p.Pro1478=
XM_011538941.2:c.4434C>T	XP_011537243.1:p.Pro1478=
XM_011538944.3:c.3945C>T	XP_011537246.1:p.Pro1315=
XM_017020164.2:c.4476C>T	XP_016875653.1:p.Pro1492=
XM_017020165.1:c.4434C>T	XP_016875654.1:p.Pro1478=
XM_017020166.2:c.4305C>T	XP_016875655.1:p.Pro1435=
XM_017020167.1:c.4236C>T	XP_016875656.1:p.Pro1412=
XM_017020168.1:c.3987C>T	XP_016875657.1:p.Pro1329=
XM_017020169.2:c.3945C>T	XP_016875658.1:p.Pro1315=
XM_017020170.1:c.3945C>T	XP_016875659.1:p.Pro1315=
XM_017020171.1:c.2976C>T	XP_016875660.1:p.Pro992=
XM_017020172.1:c.2934C>T	XP_016875661.1:p.Pro978=
XM_017020173.2:c.2487C>T	XP_016875662.1:p.Pro829=
XM_017020174.1:c.2445C>T	XP_016875663.1:p.Pro815=
XM_017020175.1:c.2487C>T	XP_016875664.1:p.Pro829=
NM_001024383.2:c.4476C>T MANE Select	NP_001019554.1:p.Pro1492=
NM_014903.6:c.4476C>T	NP_055718.4:p.Pro1492=