Canonical Allele Identifier: CA413255661

Gene: SMC1A

Linked Data

• dbSNP Id: rs1556890154
• gnomAD v2: X-53436136-G-A
• gnomAD v4: X-53409205-G-A
• MyVariant Identifiers: chrX:g.53436136G>A (hg19) ; chrX:g.53409205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409205G>A , CM000685.2:g.53409205G>A	GRCh38
NC_000023.10:g.53436136G>A , CM000685.1:g.53436136G>A	GRCh37
NC_000023.9:g.53452861G>A	NCBI36
NG_006988.2:g.18466C>T , LRG_773:g.18466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1402C>T MANE Select	ENSP00000323421.3:p.Arg468Trp
ENST00000674590.1:c.634C>T	ENSP00000502626.1:p.Arg212Trp
ENST00000675065.1:n.754C>T
ENST00000675504.1:c.1336C>T	ENSP00000502524.1:p.Arg446Trp
ENST00000322213.8:c.1402C>T	ENSP00000323421.3:p.Arg468Trp
ENST00000375340.10:c.1336C>T	ENSP00000364489.7:p.Arg446Trp
NM_001281463.1:c.1336C>T , LRG_773t1:c.1336C>T	NP_001268392.1:p.Arg446Trp
NM_006306.3:c.1402C>T , LRG_773t2:c.1402C>T	NP_006297.2:p.Arg468Trp
NM_006306.4:c.1402C>T MANE Select	NP_006297.2:p.Arg468Trp