Canonical Allele Identifier: CA876270565
Gene: SMC1A HGNC NCBI

Linked Data

dbSNP Id: rs1192083756
gnomAD v3: X-53382178-T-C
gnomAD v4: X-53382178-T-C
MyVariant Identifiers: chrX:g.53382178T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382178T>C , CM000685.2:g.53382178T>C GRCh38
NC_000023.10:g.53409099T>C , CM000685.1:g.53409099T>C GRCh37
NC_000023.9:g.53425824T>C NCBI36
NG_006988.2:g.45493A>G , LRG_773:g.45493A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3437+54A>G MANE Select ENSP00000323421.3:n.3437+54A>G
ENST00000674590.1:c.2669+54A>G ENSP00000502626.1:n.2669+54A>G
ENST00000675504.1:c.3371+54A>G ENSP00000502524.1:n.3371+54A>G
ENST00000322213.8:c.3437+54A>G ENSP00000323421.3:n.3437+54A>G
ENST00000375340.10:c.3371+54A>G ENSP00000364489.7:n.3371+54A>G
ENST00000469129.1:n.347A>G
ENST00000470241.2:c.727+54A>G
NM_001281463.1:c.3371+54A>G , LRG_773t1:c.3371+54A>G NP_001268392.1:n.3371+54A>G
NM_006306.3:c.3437+54A>G , LRG_773t2:c.3437+54A>G NP_006297.2:n.3437+54A>G
NM_006306.4:c.3437+54A>G MANE Select NP_006297.2:n.3437+54A>G