Canonical Allele Identifier: CA384792125

Gene: SMARCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50090357C>A , CM000674.2:g.50090357C>A	GRCh38
NC_000012.11:g.50484140C>A , CM000674.1:g.50484140C>A	GRCh37
NC_000012.10:g.48770407C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003076.5:c.990C>A MANE Select	NP_003067.3:p.Asp330Glu
ENST00000394963.9:c.990C>A MANE Select	ENSP00000378414.4:p.Asp330Glu
NM_003076.4:c.990C>A	NP_003067.3:p.Asp330Glu
NM_139071.2:c.990C>A	NP_620710.2:p.Asp330Glu
NM_139071.3:c.990C>A	NP_620710.2:p.Asp330Glu
ENST00000381513.8:c.990C>A	ENSP00000370924.4:p.Asp330Glu
ENST00000394963.8:c.990C>A	ENSP00000378414.4:p.Asp330Glu
ENST00000548573.5:c.384C>A	ENSP00000448627.1:p.Asp128Glu
ENST00000550477.5:c.750C>A	ENSP00000448030.1:p.Asp250Glu
XM_005269107.3:c.867C>A	XP_005269164.2:p.Asp289Glu
XM_005269107.4:c.867C>A	XP_005269164.2:p.Asp289Glu
XR_944683.1:n.1160C>A
XR_944683.2:n.1124C>A
XR_944684.1:n.1160C>A
XR_944684.2:n.1124C>A