Canonical Allele Identifier: CA2691663311
Gene: SCAI HGNC NCBI

Linked Data

gnomAD v4: 9-124968240-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124968240G>A , CM000671.2:g.124968240G>A GRCh38
NC_000009.11:g.127730519G>A , CM000671.1:g.127730519G>A GRCh37
NC_000009.10:g.126770340G>A NCBI36
NG_016620.1:g.180320C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336505.11:c.1674+3130C>T MANE Select ENSP00000336756.6:n.1674+3130C>T
ENST00000336505.10:c.1674+3130C>T ENSP00000336756.5:n.1674+3130C>T
ENST00000373549.8:c.1743+3130C>T ENSP00000362650.4:n.1743+3130C>T
ENST00000467917.5:c.606+3130C>T
ENST00000477186.5:c.*119+3130C>T ENSP00000419576.1:n.*119+3130C>T
NM_001144877.2:c.1674+3130C>T NP_001138349.1:n.1674+3130C>T
NM_173690.4:c.1743+3130C>T NP_775961.2:n.1743+3130C>T
XR_929767.1:n.1945+3130C>T
NM_001144877.3:c.1674+3130C>T MANE Select NP_001138349.1:n.1674+3130C>T
NM_173690.5:c.1743+3130C>T NP_775961.2:n.1743+3130C>T
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