Canonical Allele Identifier: CA10420495

Gene: SMC1A

Linked Data

• dbSNP Id: rs376368317
• ExAC: X:53432288 T / G
• gnomAD v2: X-53432288-T-G
• gnomAD v4: X-53405356-T-G
• MyVariant Identifiers: chrX:g.53432288T>G (hg19) ; chrX:g.53405356T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405356T>G , CM000685.2:g.53405356T>G	GRCh38
NC_000023.10:g.53432288T>G , CM000685.1:g.53432288T>G	GRCh37
NC_000023.9:g.53449013T>G	NCBI36
NG_006988.2:g.22315A>C , LRG_773:g.22315A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1947A>C MANE Select	ENSP00000323421.3:p.Ser649=
ENST00000674590.1:c.1179A>C	ENSP00000502626.1:p.Ser393=
ENST00000675065.1:n.1299A>C
ENST00000675504.1:c.1881A>C	ENSP00000502524.1:p.Ser627=
ENST00000322213.8:c.1947A>C	ENSP00000323421.3:p.Ser649=
ENST00000375340.10:c.1881A>C	ENSP00000364489.7:p.Ser627=
NM_001281463.1:c.1881A>C , LRG_773t1:c.1881A>C	NP_001268392.1:p.Ser627=
NM_006306.3:c.1947A>C , LRG_773t2:c.1947A>C	NP_006297.2:p.Ser649=
NM_006306.4:c.1947A>C MANE Select	NP_006297.2:p.Ser649=