Canonical Allele Identifier: CA10420611

Gene: SMC1A

Linked Data

• dbSNP Id: rs782111343
• ExAC: X:53439022 C / A
• gnomAD v2: X-53439022-C-A
• gnomAD v4: X-53412072-C-A
• MyVariant Identifiers: chrX:g.53439022C>A (hg19) ; chrX:g.53412072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412072C>A , CM000685.2:g.53412072C>A	GRCh38
NC_000023.10:g.53439022C>A , CM000685.1:g.53439022C>A	GRCh37
NC_000023.9:g.53455747C>A	NCBI36
NG_006988.2:g.15599G>T , LRG_773:g.15599G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.1036G>T MANE Select	ENSP00000323421.3:p.Ala346Ser
ENST00000674590.1:c.346-171G>T	ENSP00000502626.1:n.346-171G>T
ENST00000675065.1:n.466-171G>T
ENST00000675504.1:c.970G>T	ENSP00000502524.1:p.Ala324Ser
ENST00000322213.8:c.1036G>T	ENSP00000323421.3:p.Ala346Ser
ENST00000375340.10:c.970G>T	ENSP00000364489.7:p.Ala324Ser
ENST00000463684.1:c.*569G>T	ENSP00000476958.1:n.*569G>T
NM_001281463.1:c.970G>T , LRG_773t1:c.970G>T	NP_001268392.1:p.Ala324Ser
NM_006306.3:c.1036G>T , LRG_773t2:c.1036G>T	NP_006297.2:p.Ala346Ser
NM_006306.4:c.1036G>T MANE Select	NP_006297.2:p.Ala346Ser