Canonical Allele Identifier: CA641897739

Gene: SMC1A

Linked Data

• dbSNP Id: rs1254135605
• gnomAD v2: X-53439257-T-C
• gnomAD v3: X-53412307-T-C
• gnomAD v4: X-53412307-T-C
• MyVariant Identifiers: chrX:g.53439257T>C (hg19) ; chrX:g.53412307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412307T>C , CM000685.2:g.53412307T>C	GRCh38
NC_000023.10:g.53439257T>C , CM000685.1:g.53439257T>C	GRCh37
NC_000023.9:g.53455982T>C	NCBI36
NG_006988.2:g.15364A>G , LRG_773:g.15364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.855-54A>G MANE Select	ENSP00000323421.3:n.855-54A>G
ENST00000674590.1:c.346-406A>G	ENSP00000502626.1:n.346-406A>G
ENST00000675065.1:n.466-406A>G
ENST00000675504.1:c.789-54A>G	ENSP00000502524.1:n.789-54A>G
ENST00000322213.8:c.855-54A>G	ENSP00000323421.3:n.855-54A>G
ENST00000375340.10:c.789-54A>G	ENSP00000364489.7:n.789-54A>G
ENST00000463684.1:c.*388-54A>G	ENSP00000476958.1:n.*388-54A>G
NM_001281463.1:c.789-54A>G , LRG_773t1:c.789-54A>G	NP_001268392.1:n.789-54A>G
NM_006306.3:c.855-54A>G , LRG_773t2:c.855-54A>G	NP_006297.2:n.855-54A>G
NM_006306.4:c.855-54A>G MANE Select	NP_006297.2:n.855-54A>G