Canonical Allele Identifier: CA1878666292
Gene: SCAI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124968230G= , CM000671.2:g.124968230G= GRCh38
NC_000009.11:g.127730509G= , CM000671.1:g.127730509G= GRCh37
NC_000009.10:g.126770330G= NCBI36
NG_016620.1:g.180330C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336505.11:c.1674+3140C= MANE Select ENSP00000336756.6:n.1674+3140C=
ENST00000336505.10:c.1674+3140C= ENSP00000336756.5:n.1674+3140C=
ENST00000373549.8:c.1743+3140C= ENSP00000362650.4:n.1743+3140C=
ENST00000467917.5:c.606+3140C=
ENST00000477186.5:c.*119+3140C= ENSP00000419576.1:n.*119+3140C=
NM_001144877.2:c.1674+3140C= NP_001138349.1:n.1674+3140C=
NM_173690.4:c.1743+3140C= NP_775961.2:n.1743+3140C=
XR_929767.1:n.1945+3140C=
NM_001144877.3:c.1674+3140C= MANE Select NP_001138349.1:n.1674+3140C=
NM_173690.5:c.1743+3140C= NP_775961.2:n.1743+3140C=