Canonical Allele Identifier: CA516551626

Gene: SMC1A

Linked Data

• dbSNP Id: rs781974886
• gnomAD v3: X-53378157-GTAT-G
• gnomAD v4: X-53378157-GTAT-G
• MyVariant Identifiers: chrX:g.53405079_53405081del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378163_53378165del , CM000685.2:g.53378163_53378165del	GRCh38
NC_000023.10:g.53405084_53405086del , CM000685.1:g.53405084_53405086del	GRCh37
NC_000023.9:g.53421809_53421811del	NCBI36
NG_006988.2:g.49511_49513del , LRG_773:g.49511_49513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*1943_*1945del MANE Select	ENSP00000323421.3:n.*1943_*1945del
ENST00000675504.1:c.*1943_*1945del	ENSP00000502524.1:n.*1943_*1945del
ENST00000322213.8:c.*1943_*1945del	ENSP00000323421.3:n.*1943_*1945del
ENST00000375340.10:c.*1943_*1945del	ENSP00000364489.7:n.*1943_*1945del
NM_001281463.1:c.*1943_*1945del , LRG_773t1:c.*1943_*1945del	NP_001268392.1:n.*1943_*1945del
NM_006306.3:c.*1943_*1945del , LRG_773t2:c.*1943_*1945del	NP_006297.2:n.*1943_*1945del
NM_006306.4:c.*1943_*1945del MANE Select	NP_006297.2:n.*1943_*1945del