Canonical Allele Identifier: CA395993109

Gene: NUP93

Linked Data

• dbSNP Id: rs1299614557
• gnomAD v2: 16-56870570-T-G
• gnomAD v3: 16-56836658-T-G
• gnomAD v4: 16-56836658-T-G
• MyVariant Identifiers: chr16:g.56870570T>G (hg19) ; chr16:g.56836658T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836658T>G , CM000678.2:g.56836658T>G	GRCh38
NC_000016.9:g.56870570T>G , CM000678.1:g.56870570T>G	GRCh37
NC_000016.8:g.55428071T>G	NCBI36
NG_052904.1:g.111554T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1840T>G MANE Select	ENSP00000310668.5:p.Ser614Ala
ENST00000308159.9:c.1840T>G	ENSP00000310668.5:p.Ser614Ala
ENST00000542526.5:c.1471T>G	ENSP00000440235.1:p.Ser491Ala
ENST00000563405.1:c.34T>G	ENSP00000458078.1:p.Ser12Ala
ENST00000564887.5:c.1471T>G	ENSP00000458039.1:p.Ser491Ala
ENST00000569842.5:c.1840T>G	ENSP00000458101.1:p.Ser614Ala
NM_001242795.1:c.1471T>G	NP_001229724.1:p.Ser491Ala
NM_001242796.1:c.1471T>G	NP_001229725.1:p.Ser491Ala
NM_014669.4:c.1840T>G	NP_055484.3:p.Ser614Ala
XM_005256263.2:c.1840T>G	XP_005256320.1:p.Ser614Ala
NM_001242796.2:c.1471T>G	NP_001229725.1:p.Ser491Ala
XM_005256263.3:c.1840T>G	XP_005256320.1:p.Ser614Ala
NM_014669.5:c.1840T>G MANE Select	NP_055484.3:p.Ser614Ala
NM_001242795.2:c.1471T>G	NP_001229724.1:p.Ser491Ala