Canonical Allele Identifier: CA577830236

Gene: NUP205

Linked Data

• dbSNP Id: rs1414153006
• gnomAD v2: 7-135329963-A-C
• gnomAD v3: 7-135645215-A-C
• gnomAD v4: 7-135645215-A-C
• MyVariant Identifiers: chr7:g.135329963A>C (hg19) ; chr7:g.135645215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645215A>C , CM000669.2:g.135645215A>C	GRCh38
NC_000007.13:g.135329963A>C , CM000669.1:g.135329963A>C	GRCh37
NC_000007.12:g.134980503A>C	NCBI36
NG_051184.1:g.92302A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285968.11:c.5683+197A>C MANE Select	ENSP00000285968.6:n.5683+197A>C
ENST00000285968.10:c.5683+197A>C	ENSP00000285968.6:n.5683+197A>C
ENST00000461255.5:n.890+197A>C
ENST00000477620.5:c.1405+237A>C
ENST00000490439.1:c.120+197A>C
ENST00000607647.5:n.3961+197A>C
NM_015135.2:c.5683+197A>C	NP_055950.1:n.5683+197A>C
XM_005250235.2:c.4609+197A>C	XP_005250292.1:n.4609+197A>C
NM_001329434.1:c.4609+197A>C	NP_001316363.1:n.4609+197A>C
NM_015135.3:c.5683+197A>C MANE Select	NP_055950.2:n.5683+197A>C
NM_001329434.2:c.4609+197A>C	NP_001316363.2:n.4609+197A>C