Canonical Allele Identifier: CA475482906

Gene: CATSPER1

Linked Data

• MyVariant Identifiers: chr11:g.65792921A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025450A>G , CM000673.2:g.66025450A>G	GRCh38
NC_000011.9:g.65792921A>G , CM000673.1:g.65792921A>G	GRCh37
NC_000011.8:g.65549497A>G	NCBI36
NG_016285.1:g.6068T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.930T>C MANE Select	ENSP00000309052.5:p.His310=
ENST00000312106.5:c.930T>C	ENSP00000309052.5:p.His310=
NM_053054.3:c.930T>C	NP_444282.3:p.His310=
XR_949785.1:n.1070T>C
XR_949786.1:n.1070T>C
XR_949787.1:n.1070T>C
XR_002957121.1:n.1068T>C
XR_002957122.1:n.1069T>C
XR_949785.2:n.1068T>C
XR_949787.2:n.1069T>C
NM_053054.4:c.930T>C MANE Select	NP_444282.3:p.His310=