Canonical Allele Identifier: CA1979517598
Gene: CATSPER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025349G= , CM000673.2:g.66025349G= GRCh38
NC_000011.9:g.65792820G= , CM000673.1:g.65792820G= GRCh37
NC_000011.8:g.65549396G= NCBI36
NG_016285.1:g.6169C=

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.1031C= MANE Select ENSP00000309052.5:p.Ser344=
ENST00000312106.5:c.1031C= ENSP00000309052.5:p.Ser344=
NM_053054.3:c.1031C= NP_444282.3:p.Ser344=
XR_949785.1:n.1171C=
XR_949786.1:n.1171C=
XR_949787.1:n.1171C=
XR_002957121.1:n.1169C=
XR_002957122.1:n.1170C=
XR_949785.2:n.1169C=
XR_949787.2:n.1170C=
NM_053054.4:c.1031C= MANE Select NP_444282.3:p.Ser344=