Canonical Allele Identifier: CA381337144
Gene: CATSPER1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65792820G>C (hg19) chr11:g.66025349G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025349G>C , CM000673.2:g.66025349G>C GRCh38
NC_000011.9:g.65792820G>C , CM000673.1:g.65792820G>C GRCh37
NC_000011.8:g.65549396G>C NCBI36
NG_016285.1:g.6169C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.1031C>G MANE Select ENSP00000309052.5:p.Ser344Cys
ENST00000312106.5:c.1031C>G ENSP00000309052.5:p.Ser344Cys
NM_053054.3:c.1031C>G NP_444282.3:p.Ser344Cys
XR_949785.1:n.1171C>G
XR_949786.1:n.1171C>G
XR_949787.1:n.1171C>G
XR_002957121.1:n.1169C>G
XR_002957122.1:n.1170C>G
XR_949785.2:n.1169C>G
XR_949787.2:n.1170C>G
NM_053054.4:c.1031C>G MANE Select NP_444282.3:p.Ser344Cys
Search 100 bp 5'
Search 100 bp 3'