Canonical Allele Identifier: CA6560995

Gene: SMARCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50085511C>G , CM000674.2:g.50085511C>G	GRCh38
NC_000012.11:g.50479294C>G , CM000674.1:g.50479294C>G	GRCh37
NC_000012.10:g.48765561C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003076.5:c.142C>G MANE Select	NP_003067.3:p.Leu48Val
ENST00000394963.9:c.142C>G MANE Select	ENSP00000378414.4:p.Leu48Val
NM_003076.4:c.142C>G	NP_003067.3:p.Leu48Val
NM_139071.2:c.142C>G	NP_620710.2:p.Leu48Val
NM_139071.3:c.142C>G	NP_620710.2:p.Leu48Val
ENST00000381513.8:c.142C>G	ENSP00000370924.4:p.Leu48Val
ENST00000394963.8:c.142C>G	ENSP00000378414.4:p.Leu48Val
ENST00000547247.5:n.170C>G
ENST00000547637.1:n.159C>G
ENST00000550477.5:c.142C>G	ENSP00000448030.1:p.Leu48Val
ENST00000551966.5:c.142C>G	ENSP00000447386.1:p.Leu48Val
XM_005269107.3:c.142C>G	XP_005269164.2:p.Leu48Val
XM_005269107.4:c.142C>G	XP_005269164.2:p.Leu48Val
XM_011538695.1:c.142C>G	XP_011536997.1:p.Leu48Val
XM_011538695.2:c.142C>G	XP_011536997.1:p.Leu48Val
XR_944683.1:n.312C>G
XR_944683.2:n.276C>G
XR_944684.1:n.312C>G
XR_944684.2:n.276C>G