Canonical Allele Identifier: CA357231

Gene: NUP205

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135648501T>C , CM000669.2:g.135648501T>C	GRCh38
NC_000007.13:g.135333249T>C , CM000669.1:g.135333249T>C	GRCh37
NC_000007.12:g.134983789T>C	NCBI36
NG_051184.1:g.95588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5984T>C MANE Select	ENSP00000285968.6:p.Phe1995Ser
ENST00000285968.10:c.5984T>C	ENSP00000285968.6:p.Phe1995Ser
ENST00000461255.5:n.1191T>C
ENST00000477620.5:c.1577T>C
ENST00000490439.1:c.429T>C
ENST00000491089.1:n.305T>C
ENST00000607647.5:n.4262T>C
NM_015135.2:c.5984T>C	NP_055950.1:p.Phe1995Ser
XM_005250235.2:c.4910T>C	XP_005250292.1:p.Phe1637Ser
NM_001329434.1:c.4910T>C	NP_001316363.1:p.Phe1637Ser
NM_015135.3:c.5984T>C MANE Select	NP_055950.2:p.Phe1995Ser
NM_001329434.2:c.4910T>C	NP_001316363.2:p.Phe1637Ser