Canonical Allele Identifier: CA2708360
Gene: SPATA16 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.173117326G>A , CM000665.2:g.173117326G>A GRCh38
NC_000003.11:g.172835116G>A , CM000665.1:g.172835116G>A GRCh37
NC_000003.10:g.174317810G>A NCBI36
NG_021422.1:g.28943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351008.4:c.406C>T MANE Select ENSP00000341765.3:p.Arg136Cys
ENST00000351008.3:c.406C>T ENSP00000341765.3:p.Arg136Cys
NM_031955.5:c.406C>T NP_114161.3:p.Arg136Cys
XM_006713778.2:c.406C>T XP_006713841.1:p.Arg136Cys
XM_011513222.1:c.406C>T XP_011511524.1:p.Arg136Cys
XR_924722.1:n.133+2974G>A
XR_924723.1:n.134-993G>A
XM_006713778.3:c.406C>T XP_006713841.1:p.Arg136Cys
XM_017007308.2:c.406C>T XP_016862797.1:p.Arg136Cys
XR_001741021.1:n.65+2974G>A
NM_031955.6:c.406C>T MANE Select NP_114161.3:p.Arg136Cys