Canonical Allele Identifier: CA2671444787

Gene: SMARCAD1

Linked Data

• gnomAD v4: 4-94253597-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94253597T>C , CM000666.2:g.94253597T>C	GRCh38
NC_000004.11:g.95174748T>C , CM000666.1:g.95174748T>C	GRCh37
NC_000004.10:g.95393771T>C	NCBI36
NG_031945.1:g.50990T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354268.9:c.1281+590T>C MANE Select	ENSP00000346217.4:n.1281+590T>C
ENST00000354268.8:c.1281+590T>C	ENSP00000346217.4:n.1281+590T>C
ENST00000359052.8:c.1281+590T>C	ENSP00000351947.4:n.1281+590T>C
ENST00000394961.6:c.*1186+590T>C	ENSP00000378413.2:n.*1186+590T>C
ENST00000457823.6:c.1281+590T>C	ENSP00000415576.2:n.1281+590T>C
ENST00000509418.1:c.-84T>C	ENSP00000423286.1:n.-84T>C
ENST00000510105.5:c.*619+590T>C	ENSP00000424624.1:n.*619+590T>C
NM_001128429.2:c.1281+590T>C	NP_001121901.1:n.1281+590T>C
NM_001128430.1:c.1281+590T>C	NP_001121902.1:n.1281+590T>C
NM_001254949.1:c.-84T>C	NP_001241878.1:n.-84T>C
NM_020159.4:c.1281+590T>C	NP_064544.2:n.1281+590T>C
NR_045644.1:n.1607+590T>C
XR_938765.1:n.1536+590T>C
XR_938766.1:n.1536+590T>C
XM_017008463.2:c.1281+590T>C	XP_016863952.1:n.1281+590T>C
XM_017008464.2:c.-466+590T>C	XP_016863953.1:n.-466+590T>C
XM_017008465.2:c.-466+590T>C	XP_016863954.1:n.-466+590T>C
XM_024454154.1:c.1281+590T>C	XP_024309922.1:n.1281+590T>C
XR_001741292.2:n.1458+590T>C
XR_938765.2:n.1536+590T>C
NM_001128429.3:c.1281+590T>C	NP_001121901.1:n.1281+590T>C
NM_001128430.2:c.1281+590T>C	NP_001121902.1:n.1281+590T>C
NM_001254949.2:c.-84T>C	NP_001241878.1:n.-84T>C
NM_001375855.1:c.1281+590T>C	NP_001362784.1:n.1281+590T>C
NM_001375856.1:c.1281+590T>C	NP_001362785.1:n.1281+590T>C
NM_001375857.1:c.1278+590T>C	NP_001362786.1:n.1278+590T>C
NM_001375858.1:c.1281+590T>C	NP_001362787.1:n.1281+590T>C
NM_001375859.1:c.-84T>C	NP_001362788.1:n.-84T>C
NM_020159.5:c.1281+590T>C MANE Select	NP_064544.2:n.1281+590T>C
NR_045644.2:n.1607+590T>C
NR_164722.1:n.1458+590T>C
NR_164723.1:n.1536+590T>C
NR_164724.1:n.1548+590T>C
NR_164725.1:n.1458+590T>C
NR_164726.1:n.1357+590T>C
NR_164727.1:n.1533+590T>C
NR_164728.1:n.1536+590T>C
NR_164729.1:n.1458+590T>C
NR_164730.1:n.1536+590T>C
NR_164731.1:n.1533+590T>C
NR_164732.1:n.1687+590T>C
NR_164733.1:n.1536+590T>C
NR_164734.1:n.1458+590T>C
NR_164735.1:n.1357+590T>C
NR_164736.1:n.1485+590T>C
NR_164737.1:n.1626+590T>C