Canonical Allele Identifier: CA10646336
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 368576
ClinVar RCV Id: RCV000271262
dbSNP Id: rs986586627
gnomAD v2: X-53405063-G-A
gnomAD v3: X-53378142-G-A
gnomAD v4: X-53378142-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53378142G>A , CM000685.2:g.53378142G>A GRCh38
NC_000023.10:g.53405063G>A , CM000685.1:g.53405063G>A GRCh37
NC_000023.9:g.53421788G>A NCBI36
NG_006988.2:g.49529C>T , LRG_773:g.49529C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.*1961C>T MANE Select ENSP00000323421.3:n.*1961C>T
ENST00000675504.1:c.*1961C>T ENSP00000502524.1:n.*1961C>T
ENST00000322213.8:c.*1961C>T ENSP00000323421.3:n.*1961C>T
ENST00000375340.10:c.*1961C>T ENSP00000364489.7:n.*1961C>T
NM_001281463.1:c.*1961C>T , LRG_773t1:c.*1961C>T NP_001268392.1:n.*1961C>T
NM_006306.3:c.*1961C>T , LRG_773t2:c.*1961C>T NP_006297.2:n.*1961C>T
NM_006306.4:c.*1961C>T MANE Select NP_006297.2:n.*1961C>T