Canonical Allele Identifier: CA1979517577
Gene: CATSPER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025342T= , CM000673.2:g.66025342T= GRCh38
NC_000011.9:g.65792813T= , CM000673.1:g.65792813T= GRCh37
NC_000011.8:g.65549389T= NCBI36
NG_016285.1:g.6176A=

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.1038A= MANE Select ENSP00000309052.5:p.Thr346=
ENST00000312106.5:c.1038A= ENSP00000309052.5:p.Thr346=
NM_053054.3:c.1038A= NP_444282.3:p.Thr346=
XR_949785.1:n.1178A=
XR_949786.1:n.1178A=
XR_949787.1:n.1178A=
XR_002957121.1:n.1176A=
XR_002957122.1:n.1177A=
XR_949785.2:n.1176A=
XR_949787.2:n.1177A=
NM_053054.4:c.1038A= MANE Select NP_444282.3:p.Thr346=