Canonical Allele Identifier: CA1979517814

Gene: CATSPER1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025440G= , CM000673.2:g.66025440G=	GRCh38
NC_000011.9:g.65792911G= , CM000673.1:g.65792911G=	GRCh37
NC_000011.8:g.65549487G=	NCBI36
NG_016285.1:g.6078C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.940C= MANE Select	ENSP00000309052.5:p.Leu314=
ENST00000312106.5:c.940C=	ENSP00000309052.5:p.Leu314=
NM_053054.3:c.940C=	NP_444282.3:p.Leu314=
XR_949785.1:n.1080C=
XR_949786.1:n.1080C=
XR_949787.1:n.1080C=
XR_002957121.1:n.1078C=
XR_002957122.1:n.1079C=
XR_949785.2:n.1078C=
XR_949787.2:n.1079C=
NM_053054.4:c.940C= MANE Select	NP_444282.3:p.Leu314=