Canonical Allele Identifier: CA381338354
Gene: CATSPER1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025441G>C , CM000673.2:g.66025441G>C GRCh38
NC_000011.9:g.65792912G>C , CM000673.1:g.65792912G>C GRCh37
NC_000011.8:g.65549488G>C NCBI36
NG_016285.1:g.6077C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.939C>G MANE Select ENSP00000309052.5:p.Tyr313Ter
ENST00000312106.5:c.939C>G ENSP00000309052.5:p.Tyr313Ter
NM_053054.3:c.939C>G NP_444282.3:p.Tyr313Ter
XR_949785.1:n.1079C>G
XR_949786.1:n.1079C>G
XR_949787.1:n.1079C>G
XR_002957121.1:n.1077C>G
XR_002957122.1:n.1078C>G
XR_949785.2:n.1077C>G
XR_949787.2:n.1078C>G
NM_053054.4:c.939C>G MANE Select NP_444282.3:p.Tyr313Ter