Canonical Allele Identifier: CA329171364

Gene: SMC1A

Linked Data

• dbSNP Id: rs2071879
• gnomAD v2: X-53441636-G-C
• gnomAD v3: X-53414687-G-C
• gnomAD v4: X-53414687-G-C
• MyVariant Identifiers: chrX:g.53441636G>C (hg19) ; chrX:g.53414687G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53414687G>C , CM000685.2:g.53414687G>C	GRCh38
NC_000023.10:g.53441636G>C , CM000685.1:g.53441636G>C	GRCh37
NC_000023.9:g.53458361G>C	NCBI36
NG_006988.2:g.12984C>G , LRG_773:g.12984C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.411+71C>G MANE Select	ENSP00000323421.3:n.411+71C>G
ENST00000674590.1:c.345+71C>G	ENSP00000502626.1:n.345+71C>G
ENST00000675065.1:n.465+71C>G
ENST00000675504.1:c.345+71C>G	ENSP00000502524.1:n.345+71C>G
ENST00000322213.8:c.411+71C>G	ENSP00000323421.3:n.411+71C>G
ENST00000375340.10:c.345+71C>G	ENSP00000364489.7:n.345+71C>G
ENST00000428014.1:c.345+71C>G	ENSP00000413509.2:n.345+71C>G
ENST00000463684.1:c.110-1252C>G	ENSP00000476958.1:n.110-1252C>G
NM_001281463.1:c.345+71C>G , LRG_773t1:c.345+71C>G	NP_001268392.1:n.345+71C>G
NM_006306.3:c.411+71C>G , LRG_773t2:c.411+71C>G	NP_006297.2:n.411+71C>G
NM_006306.4:c.411+71C>G MANE Select	NP_006297.2:n.411+71C>G