Canonical Allele Identifier: CA381338446
Gene: CATSPER1 HGNC NCBI

Linked Data

dbSNP Id: rs2135000039
MyVariant Identifiers: chr11:g.65792921A>C (hg19) chr11:g.66025450A>C (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.930T>G MANE Select ENSP00000309052.5:p.His310Gln
ENST00000312106.5:c.930T>G ENSP00000309052.5:p.His310Gln
NM_053054.3:c.930T>G NP_444282.3:p.His310Gln
XR_949785.1:n.1070T>G
XR_949786.1:n.1070T>G
XR_949787.1:n.1070T>G
XR_002957121.1:n.1068T>G
XR_002957122.1:n.1069T>G
XR_949785.2:n.1068T>G
XR_949787.2:n.1069T>G
NM_053054.4:c.930T>G MANE Select NP_444282.3:p.His310Gln
Search 100 bp 5'
Search 100 bp 3'