Canonical Allele Identifier: CA329905947

Gene: SMC1A

Linked Data

• dbSNP Id: rs782746415
• gnomAD v2: X-53405028-T-C
• gnomAD v3: X-53378107-T-C
• gnomAD v4: X-53378107-T-C
• MyVariant Identifiers: chrX:g.53405028T>C (hg19) ; chrX:g.53378107T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378107T>C , CM000685.2:g.53378107T>C	GRCh38
NC_000023.10:g.53405028T>C , CM000685.1:g.53405028T>C	GRCh37
NC_000023.9:g.53421753T>C	NCBI36
NG_006988.2:g.49564A>G , LRG_773:g.49564A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.*1996A>G MANE Select	ENSP00000323421.3:n.*1996A>G
ENST00000675504.1:c.*1996A>G	ENSP00000502524.1:n.*1996A>G
ENST00000322213.8:c.*1996A>G	ENSP00000323421.3:n.*1996A>G
ENST00000375340.10:c.*1996A>G	ENSP00000364489.7:n.*1996A>G
NM_001281463.1:c.*1996A>G , LRG_773t1:c.*1996A>G	NP_001268392.1:n.*1996A>G
NM_006306.3:c.*1996A>G , LRG_773t2:c.*1996A>G	NP_006297.2:n.*1996A>G
NM_006306.4:c.*1996A>G MANE Select	NP_006297.2:n.*1996A>G