Canonical Allele Identifier: CA1979517491
Gene: CATSPER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025331G= , CM000673.2:g.66025331G= GRCh38
NC_000011.9:g.65792802G= , CM000673.1:g.65792802G= GRCh37
NC_000011.8:g.65549378G= NCBI36
NG_016285.1:g.6187C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312106.6:c.1049C= MANE Select ENSP00000309052.5:p.Pro350=
ENST00000312106.5:c.1049C= ENSP00000309052.5:p.Pro350=
NM_053054.3:c.1049C= NP_444282.3:p.Pro350=
XR_949785.1:n.1189C=
XR_949786.1:n.1189C=
XR_949787.1:n.1189C=
XR_002957121.1:n.1187C=
XR_002957122.1:n.1188C=
XR_949785.2:n.1187C=
XR_949787.2:n.1188C=
NM_053054.4:c.1049C= MANE Select NP_444282.3:p.Pro350=