Canonical Allele Identifier: CA343327594

Gene: NIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161120726G>C , CM000663.2:g.161120726G>C	GRCh38
NC_000001.10:g.161090516G>C , CM000663.1:g.161090516G>C	GRCh37
NC_000001.9:g.159357140G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005600.3:c.945G>C MANE Select	NP_005591.1:p.Arg315Ser
ENST00000368009.7:c.945G>C MANE Select	ENSP00000356988.2:p.Arg315Ser
NM_001185092.1:c.717+494G>C	NP_001172021.1:n.717+494G>C
NM_001185092.2:c.717+494G>C	NP_001172021.1:n.717+494G>C
NM_001185093.1:c.900G>C	NP_001172022.1:p.Arg300Ser
NM_001185093.2:c.900G>C	NP_001172022.1:p.Arg300Ser
NM_001185094.1:c.837G>C	NP_001172023.1:p.Arg279Ser
NM_001185094.2:c.837G>C	NP_001172023.1:p.Arg279Ser
NM_005600.2:c.945G>C	NP_005591.1:p.Arg315Ser
ENST00000368007.8:c.900G>C	ENSP00000356986.4:p.Arg300Ser
ENST00000368008.5:c.717+494G>C	ENSP00000356987.1:n.717+494G>C
ENST00000368009.6:c.945G>C	ENSP00000356988.2:p.Arg315Ser
ENST00000392190.9:c.837G>C	ENSP00000376028.5:p.Arg279Ser
ENST00000485594.1:n.959G>C
XM_005245214.2:c.996G>C	XP_005245271.1:p.Arg332Ser
XM_005245215.3:c.996G>C	XP_005245272.1:p.Arg332Ser
XM_005245215.5:c.996G>C	XP_005245272.1:p.Arg332Ser
XM_005245216.3:c.837G>C	XP_005245273.1:p.Arg279Ser
XM_005245216.4:c.837G>C	XP_005245273.1:p.Arg279Ser
XM_006711341.2:c.768+494G>C	XP_006711404.1:n.768+494G>C
XM_017001371.1:c.609+494G>C	XP_016856860.1:n.609+494G>C
XM_024447363.1:c.768+494G>C	XP_024303131.1:n.768+494G>C