Canonical Allele Identifier: CA6114896

Gene: CATSPER1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025780G>A , CM000673.2:g.66025780G>A	GRCh38
NC_000011.9:g.65793251G>A , CM000673.1:g.65793251G>A	GRCh37
NC_000011.8:g.65549827G>A	NCBI36
NG_016285.1:g.5738C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_053054.4:c.600C>T MANE Select	NP_444282.3:p.Ser200=
ENST00000312106.6:c.600C>T MANE Select	ENSP00000309052.5:p.Ser200=
NM_053054.3:c.600C>T	NP_444282.3:p.Ser200=
ENST00000312106.5:c.600C>T	ENSP00000309052.5:p.Ser200=
XR_002957121.1:n.738C>T
XR_002957122.1:n.739C>T
XR_949785.1:n.740C>T
XR_949785.2:n.738C>T
XR_949786.1:n.740C>T
XR_949787.1:n.740C>T
XR_949787.2:n.739C>T