Canonical Allele Identifier: CA384797402

Gene: SMARCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50098959C>T , CM000674.2:g.50098959C>T	GRCh38
NC_000012.11:g.50492742C>T , CM000674.1:g.50492742C>T	GRCh37
NC_000012.10:g.48779009C>T	NCBI36
NG_032168.1:g.141C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003076.5:c.1507C>T MANE Select	NP_003067.3:p.Arg503Ter
ENST00000394963.9:c.1507C>T MANE Select	ENSP00000378414.4:p.Arg503Ter
NM_003076.4:c.1507C>T	NP_003067.3:p.Arg503Ter
NM_139071.2:c.1384C>T	NP_620710.2:p.Arg462Ter
NM_139071.3:c.1384C>T	NP_620710.2:p.Arg462Ter
ENST00000381513.8:c.1384C>T	ENSP00000370924.4:p.Arg462Ter
ENST00000394963.8:c.1507C>T	ENSP00000378414.4:p.Arg503Ter
ENST00000548573.5:c.901C>T	ENSP00000448627.1:p.Arg301Ter
ENST00000549274.1:c.305C>T
ENST00000550280.1:n.429C>T
ENST00000551352.1:n.334C>T
XM_005269107.3:c.1384C>T	XP_005269164.2:p.Arg462Ter
XM_005269107.4:c.1384C>T	XP_005269164.2:p.Arg462Ter
XR_944683.1:n.1677C>T
XR_944683.2:n.1641C>T
XR_944684.1:n.1677C>T
XR_944684.2:n.1641C>T