Canonical Allele Identifier: CA384795236

Gene: SMARCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50096916A>G , CM000674.2:g.50096916A>G	GRCh38
NC_000012.11:g.50490699A>G , CM000674.1:g.50490699A>G	GRCh37
NC_000012.10:g.48776966A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003076.5:c.1336A>G MANE Select	NP_003067.3:p.Arg446Gly
ENST00000394963.9:c.1336A>G MANE Select	ENSP00000378414.4:p.Arg446Gly
NM_003076.4:c.1336A>G	NP_003067.3:p.Arg446Gly
NM_139071.2:c.1270-1798A>G	NP_620710.2:n.1270-1798A>G
NM_139071.3:c.1270-1798A>G	NP_620710.2:n.1270-1798A>G
ENST00000381513.8:c.1270-1798A>G	ENSP00000370924.4:n.1270-1798A>G
ENST00000394963.8:c.1336A>G	ENSP00000378414.4:p.Arg446Gly
ENST00000548573.5:c.730A>G	ENSP00000448627.1:p.Arg244Gly
ENST00000549274.1:c.134A>G
ENST00000550280.1:n.258A>G
XM_005269107.3:c.1213A>G	XP_005269164.2:p.Arg405Gly
XM_005269107.4:c.1213A>G	XP_005269164.2:p.Arg405Gly
XR_944683.1:n.1506A>G
XR_944683.2:n.1470A>G
XR_944684.1:n.1506A>G
XR_944684.2:n.1470A>G