Canonical Allele Identifier: CA3013171

Gene: SMARCAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94249688G>A , CM000666.2:g.94249688G>A	GRCh38
NC_000004.11:g.95170839G>A , CM000666.1:g.95170839G>A	GRCh37
NC_000004.10:g.95389862G>A	NCBI36
NG_031945.1:g.47081G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020159.5:c.740G>A MANE Select	NP_064544.2:p.Ser247Asn
ENST00000354268.9:c.740G>A MANE Select	ENSP00000346217.4:p.Ser247Asn
NM_001128429.2:c.740G>A	NP_001121901.1:p.Ser247Asn
NM_001128429.3:c.740G>A	NP_001121901.1:p.Ser247Asn
NM_001128430.1:c.740G>A	NP_001121902.1:p.Ser247Asn
NM_001128430.2:c.740G>A	NP_001121902.1:p.Ser247Asn
NM_001375855.1:c.740G>A	NP_001362784.1:p.Ser247Asn
NM_001375856.1:c.740G>A	NP_001362785.1:p.Ser247Asn
NM_001375857.1:c.737G>A	NP_001362786.1:p.Ser246Asn
NM_001375858.1:c.740G>A	NP_001362787.1:p.Ser247Asn
NM_020159.4:c.740G>A	NP_064544.2:p.Ser247Asn
NR_045644.1:n.1066G>A
NR_045644.2:n.1066G>A
NR_164722.1:n.917G>A
NR_164723.1:n.995G>A
NR_164724.1:n.917G>A
NR_164725.1:n.917G>A
NR_164726.1:n.816G>A
NR_164727.1:n.992G>A
NR_164728.1:n.995G>A
NR_164729.1:n.917G>A
NR_164730.1:n.995G>A
NR_164731.1:n.992G>A
NR_164732.1:n.1146G>A
NR_164733.1:n.995G>A
NR_164734.1:n.917G>A
NR_164735.1:n.816G>A
NR_164736.1:n.944G>A
NR_164737.1:n.995G>A
ENST00000354268.8:c.740G>A	ENSP00000346217.4:p.Ser247Asn
ENST00000359052.8:c.740G>A	ENSP00000351947.4:p.Ser247Asn
ENST00000394961.6:c.*645G>A	ENSP00000378413.2:n.*645G>A
ENST00000457823.6:c.740G>A	ENSP00000415576.2:p.Ser247Asn
ENST00000510105.5:c.*78G>A	ENSP00000424624.1:n.*78G>A
XM_017008463.2:c.740G>A	XP_016863952.1:p.Ser247Asn
XM_017008464.2:c.-1007G>A	XP_016863953.1:n.-1007G>A
XM_017008465.2:c.-1007G>A	XP_016863954.1:n.-1007G>A
XM_024454154.1:c.740G>A	XP_024309922.1:p.Ser247Asn
XR_001741292.2:n.917G>A
XR_938765.1:n.995G>A
XR_938765.2:n.995G>A
XR_938766.1:n.995G>A