Canonical Allele Identifier: CA413253211
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53405632-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405632G>A , CM000685.2:g.53405632G>A GRCh38
NC_000023.10:g.53432564G>A , CM000685.1:g.53432564G>A GRCh37
NC_000023.9:g.53449289G>A NCBI36
NG_006988.2:g.22039C>T , LRG_773:g.22039C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1772C>T MANE Select ENSP00000323421.3:p.Ala591Val
ENST00000674590.1:c.1004C>T ENSP00000502626.1:p.Ala335Val
ENST00000675065.1:n.1124C>T
ENST00000675504.1:c.1706C>T ENSP00000502524.1:p.Ala569Val
ENST00000322213.8:c.1772C>T ENSP00000323421.3:p.Ala591Val
ENST00000375340.10:c.1706C>T ENSP00000364489.7:p.Ala569Val
NM_001281463.1:c.1706C>T , LRG_773t1:c.1706C>T NP_001268392.1:p.Ala569Val
NM_006306.3:c.1772C>T , LRG_773t2:c.1772C>T NP_006297.2:p.Ala591Val
NM_006306.4:c.1772C>T MANE Select NP_006297.2:p.Ala591Val