Canonical Allele Identifier: CA281497190

Gene: NUP93

Linked Data

• dbSNP Id: rs764516342
• gnomAD v4: 16-56833314-T-C
• MyVariant Identifiers: chr16:g.56867226T>C (hg19) ; chr16:g.56833314T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56833314T>C , CM000678.2:g.56833314T>C	GRCh38
NC_000016.9:g.56867226T>C , CM000678.1:g.56867226T>C	GRCh37
NC_000016.8:g.55424727T>C	NCBI36
NG_052904.1:g.108210T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000308159.10:c.1445T>C MANE Select	ENSP00000310668.5:p.Met482Thr
ENST00000308159.9:c.1445T>C	ENSP00000310668.5:p.Met482Thr
ENST00000542526.5:c.1076T>C	ENSP00000440235.1:p.Met359Thr
ENST00000563437.1:n.687T>C
ENST00000564887.5:c.1076T>C	ENSP00000458039.1:p.Met359Thr
ENST00000569842.5:c.1445T>C	ENSP00000458101.1:p.Met482Thr
NM_001242795.1:c.1076T>C	NP_001229724.1:p.Met359Thr
NM_001242796.1:c.1076T>C	NP_001229725.1:p.Met359Thr
NM_014669.4:c.1445T>C	NP_055484.3:p.Met482Thr
XM_005256263.2:c.1445T>C	XP_005256320.1:p.Met482Thr
NM_001242796.2:c.1076T>C	NP_001229725.1:p.Met359Thr
XM_005256263.3:c.1445T>C	XP_005256320.1:p.Met482Thr
NM_014669.5:c.1445T>C MANE Select	NP_055484.3:p.Met482Thr
NM_001242795.2:c.1076T>C	NP_001229724.1:p.Met359Thr