Canonical Allele Identifier: CA1979517644
Gene: CATSPER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025372G= , CM000673.2:g.66025372G= GRCh38
NC_000011.9:g.65792843G= , CM000673.1:g.65792843G= GRCh37
NC_000011.8:g.65549419G= NCBI36
NG_016285.1:g.6146C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312106.6:c.1008C= MANE Select ENSP00000309052.5:p.His336=
ENST00000312106.5:c.1008C= ENSP00000309052.5:p.His336=
NM_053054.3:c.1008C= NP_444282.3:p.His336=
XR_949785.1:n.1148C=
XR_949786.1:n.1148C=
XR_949787.1:n.1148C=
XR_002957121.1:n.1146C=
XR_002957122.1:n.1147C=
XR_949785.2:n.1146C=
XR_949787.2:n.1147C=
NM_053054.4:c.1008C= MANE Select NP_444282.3:p.His336=