Canonical Allele Identifier: CA18234679

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9975721T>C , CM000663.2:g.9975721T>C	GRCh38
NC_000001.10:g.10035779T>C , CM000663.1:g.10035779T>C	GRCh37
NC_000001.9:g.9958366T>C	NCBI36
NG_032954.1:g.37294T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.245T>C MANE Select	NP_073624.2:p.Val82Ala
ENST00000377205.6:c.245T>C MANE Select	ENSP00000366410.1:p.Val82Ala
NM_001297778.1:c.245T>C	NP_001284707.1:p.Val82Ala
NM_001297779.1:c.245T>C	NP_001284708.1:p.Val82Ala
NM_001297779.2:c.245T>C	NP_001284708.1:p.Val82Ala
NM_022787.3:c.245T>C	NP_073624.2:p.Val82Ala
ENST00000377205.5:c.245T>C	ENSP00000366410.1:p.Val82Ala
ENST00000403197.5:c.245T>C	ENSP00000385131.1:p.Val82Ala
ENST00000462686.1:c.245T>C	ENSP00000435134.1:p.Val82Ala
XM_011541971.1:c.245T>C	XP_011540273.1:p.Val82Ala
XM_011541971.2:c.245T>C	XP_011540273.1:p.Val82Ala
XM_017002107.2:c.245T>C	XP_016857596.1:p.Val82Ala
XM_017002108.2:c.245T>C	XP_016857597.1:p.Val82Ala