Canonical Allele Identifier: CA395990131

Gene: NUP93

Linked Data

• MyVariant Identifiers: chr16:g.56867227G>C (hg19) ; chr16:g.56833315G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56833315G>C , CM000678.2:g.56833315G>C	GRCh38
NC_000016.9:g.56867227G>C , CM000678.1:g.56867227G>C	GRCh37
NC_000016.8:g.55424728G>C	NCBI36
NG_052904.1:g.108211G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000308159.10:c.1446G>C MANE Select	ENSP00000310668.5:p.Met482Ile
ENST00000308159.9:c.1446G>C	ENSP00000310668.5:p.Met482Ile
ENST00000542526.5:c.1077G>C	ENSP00000440235.1:p.Met359Ile
ENST00000563437.1:n.688G>C
ENST00000564887.5:c.1077G>C	ENSP00000458039.1:p.Met359Ile
ENST00000569842.5:c.1446G>C	ENSP00000458101.1:p.Met482Ile
NM_001242795.1:c.1077G>C	NP_001229724.1:p.Met359Ile
NM_001242796.1:c.1077G>C	NP_001229725.1:p.Met359Ile
NM_014669.4:c.1446G>C	NP_055484.3:p.Met482Ile
XM_005256263.2:c.1446G>C	XP_005256320.1:p.Met482Ile
NM_001242796.2:c.1077G>C	NP_001229725.1:p.Met359Ile
XM_005256263.3:c.1446G>C	XP_005256320.1:p.Met482Ile
NM_014669.5:c.1446G>C MANE Select	NP_055484.3:p.Met482Ile
NM_001242795.2:c.1077G>C	NP_001229724.1:p.Met359Ile