Canonical Allele Identifier: CA381337375
Gene: CATSPER1 HGNC NCBI

Linked Data

dbSNP Id: rs1212413007
gnomAD v2: 11-65792839-C-T
gnomAD v4: 11-66025368-C-T
MyVariant Identifiers: chr11:g.65792839C>T (hg19) chr11:g.66025368C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025368C>T , CM000673.2:g.66025368C>T GRCh38
NC_000011.9:g.65792839C>T , CM000673.1:g.65792839C>T GRCh37
NC_000011.8:g.65549415C>T NCBI36
NG_016285.1:g.6150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312106.6:c.1012G>A MANE Select ENSP00000309052.5:p.Ala338Thr
ENST00000312106.5:c.1012G>A ENSP00000309052.5:p.Ala338Thr
NM_053054.3:c.1012G>A NP_444282.3:p.Ala338Thr
XR_949785.1:n.1152G>A
XR_949786.1:n.1152G>A
XR_949787.1:n.1152G>A
XR_002957121.1:n.1150G>A
XR_002957122.1:n.1151G>A
XR_949785.2:n.1150G>A
XR_949787.2:n.1151G>A
NM_053054.4:c.1012G>A MANE Select NP_444282.3:p.Ala338Thr
Search 100 bp 5'
Search 100 bp 3'