Canonical Allele Identifier: CA199774479
Gene: SCAI HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs28942070

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124968410A>C , CM000671.2:g.124968410A>C GRCh38
NC_000009.11:g.127730689A>C , CM000671.1:g.127730689A>C GRCh37
NC_000009.10:g.126770510A>C NCBI36
NG_016620.1:g.180150T>G

Transcript Alleles

HGVS Amino-acid change
NM_001144877.2:c.1674+2960T>G VV NP_001138349.1:p.=
NM_173690.4:c.1743+2960T>G VV NP_775961.2:p.=
XR_929767.1:n.1945+2960T>G
ENST00000336505.10:c.1674+2960T>G ENSP00000336756.5:p.=
ENST00000373549.8:c.1743+2960T>G ENSP00000362650.4:p.=
ENST00000411625.2:n.431T>G
ENST00000467917.5:n.606+2960T>G
ENST00000477186.5:c.*119+2960T>G ENSP00000419576.1:p.=