Canonical Allele Identifier: CA6677453

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68696866T>C , CM000674.2:g.68696866T>C	GRCh38
NC_000012.11:g.69090646T>C , CM000674.1:g.69090646T>C	GRCh37
NC_000012.10:g.67376913T>C	NCBI36
NG_046600.2:g.14916T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.496T>C MANE Select	NP_065134.1:p.Ser166Pro
ENST00000229179.9:c.496T>C MANE Select	ENSP00000229179.4:p.Ser166Pro
NM_001330192.1:c.409T>C	NP_001317121.1:p.Ser137Pro
NM_001330192.2:c.409T>C	NP_001317121.1:p.Ser137Pro
NM_020401.2:c.496T>C	NP_065134.1:p.Ser166Pro
NM_020401.3:c.496T>C	NP_065134.1:p.Ser166Pro
ENST00000229179.8:c.496T>C	ENSP00000229179.4:p.Ser166Pro
ENST00000378905.6:c.43T>C	ENSP00000368185.2:p.Ser15Pro
ENST00000535333.5:n.538T>C
ENST00000535718.5:c.*39T>C	ENSP00000445567.1:n.*39T>C
ENST00000537598.5:n.562T>C
ENST00000538549.1:c.196T>C	ENSP00000440116.1:p.Ser66Pro
ENST00000539906.5:c.409T>C	ENSP00000441448.1:p.Ser137Pro
ENST00000545140.1:n.472T>C
XM_005269037.2:c.496T>C	XP_005269094.1:p.Ser166Pro
XM_005269037.4:c.496T>C	XP_005269094.1:p.Ser166Pro
XM_011538576.1:c.409T>C	XP_011536878.1:p.Ser137Pro