Canonical Allele Identifier: CA6114830
Gene: CATSPER1 HGNC NCBI

Linked Data

dbSNP Id: rs749765238
ExAC: 11:65792912 G / A
gnomAD v2: 11-65792912-G-A
gnomAD v4: 11-66025441-G-A
MyVariant Identifiers: chr11:g.65792912G>A (hg19) chr11:g.66025441G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025441G>A , CM000673.2:g.66025441G>A GRCh38
NC_000011.9:g.65792912G>A , CM000673.1:g.65792912G>A GRCh37
NC_000011.8:g.65549488G>A NCBI36
NG_016285.1:g.6077C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.939C>T MANE Select ENSP00000309052.5:p.Tyr313=
ENST00000312106.5:c.939C>T ENSP00000309052.5:p.Tyr313=
NM_053054.3:c.939C>T NP_444282.3:p.Tyr313=
XR_949785.1:n.1079C>T
XR_949786.1:n.1079C>T
XR_949787.1:n.1079C>T
XR_002957121.1:n.1077C>T
XR_002957122.1:n.1078C>T
XR_949785.2:n.1077C>T
XR_949787.2:n.1078C>T
NM_053054.4:c.939C>T MANE Select NP_444282.3:p.Tyr313=
Search 100 bp 5'
Search 100 bp 3'