Canonical Allele Identifier: CA384793796

Gene: SMARCD1

Linked Data

• ClinVar Variation Id: 2578522
• ClinVar RCV Id: RCV003326297
• MyVariant Identifiers: chr12:g.50488219G>A (hg19) ; chr12:g.50094436G>A (hg38)
• MutSpliceDB: CA384793796

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50094436G>A , CM000674.2:g.50094436G>A	GRCh38
NC_000012.11:g.50488219G>A , CM000674.1:g.50488219G>A	GRCh37
NC_000012.10:g.48774486G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394963.9:c.1134-1G>A MANE Select	ENSP00000378414.4:n.1134-1G>A
ENST00000381513.8:c.1134-1G>A	ENSP00000370924.4:n.1134-1G>A
ENST00000394963.8:c.1134-1G>A	ENSP00000378414.4:n.1134-1G>A
ENST00000548573.5:c.528-1G>A	ENSP00000448627.1:n.528-1G>A
NM_003076.4:c.1134-1G>A	NP_003067.3:n.1134-1G>A
NM_139071.2:c.1134-1G>A	NP_620710.2:n.1134-1G>A
XM_005269107.3:c.1011-1G>A	XP_005269164.2:n.1011-1G>A
XR_944683.1:n.1304-1G>A
XR_944684.1:n.1304-1G>A
XM_005269107.4:c.1011-1G>A	XP_005269164.2:n.1011-1G>A
XR_944683.2:n.1268-1G>A
XR_944684.2:n.1268-1G>A
NM_003076.5:c.1134-1G>A MANE Select	NP_003067.3:n.1134-1G>A
NM_139071.3:c.1134-1G>A	NP_620710.2:n.1134-1G>A