Canonical Allele Identifier: CA1979517605
Gene: CATSPER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025350A= , CM000673.2:g.66025350A= GRCh38
NC_000011.9:g.65792821A= , CM000673.1:g.65792821A= GRCh37
NC_000011.8:g.65549397A= NCBI36
NG_016285.1:g.6168T=

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.1030T= MANE Select ENSP00000309052.5:p.Ser344=
ENST00000312106.5:c.1030T= ENSP00000309052.5:p.Ser344=
NM_053054.3:c.1030T= NP_444282.3:p.Ser344=
XR_949785.1:n.1170T=
XR_949786.1:n.1170T=
XR_949787.1:n.1170T=
XR_002957121.1:n.1168T=
XR_002957122.1:n.1169T=
XR_949785.2:n.1168T=
XR_949787.2:n.1169T=
NM_053054.4:c.1030T= MANE Select NP_444282.3:p.Ser344=