Canonical Allele Identifier: CA2693803800
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53382169-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382169C>A , CM000685.2:g.53382169C>A GRCh38
NC_000023.10:g.53409090C>A , CM000685.1:g.53409090C>A GRCh37
NC_000023.9:g.53425815C>A NCBI36
NG_006988.2:g.45502G>T , LRG_773:g.45502G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3437+63G>T MANE Select ENSP00000323421.3:n.3437+63G>T
ENST00000674590.1:c.2669+63G>T ENSP00000502626.1:n.2669+63G>T
ENST00000675504.1:c.3371+63G>T ENSP00000502524.1:n.3371+63G>T
ENST00000322213.8:c.3437+63G>T ENSP00000323421.3:n.3437+63G>T
ENST00000375340.10:c.3371+63G>T ENSP00000364489.7:n.3371+63G>T
ENST00000469129.1:n.356G>T
ENST00000470241.2:c.727+63G>T
NM_001281463.1:c.3371+63G>T , LRG_773t1:c.3371+63G>T NP_001268392.1:n.3371+63G>T
NM_006306.3:c.3437+63G>T , LRG_773t2:c.3437+63G>T NP_006297.2:n.3437+63G>T
NM_006306.4:c.3437+63G>T MANE Select NP_006297.2:n.3437+63G>T