Canonical Allele Identifier: CA413257301

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53439011C>G (hg19) ; chrX:g.53412061C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412061C>G , CM000685.2:g.53412061C>G	GRCh38
NC_000023.10:g.53439011C>G , CM000685.1:g.53439011C>G	GRCh37
NC_000023.9:g.53455736C>G	NCBI36
NG_006988.2:g.15610G>C , LRG_773:g.15610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1047G>C MANE Select	ENSP00000323421.3:p.Glu349Asp
ENST00000674590.1:c.346-160G>C	ENSP00000502626.1:n.346-160G>C
ENST00000675065.1:n.466-160G>C
ENST00000675504.1:c.981G>C	ENSP00000502524.1:p.Glu327Asp
ENST00000322213.8:c.1047G>C	ENSP00000323421.3:p.Glu349Asp
ENST00000375340.10:c.981G>C	ENSP00000364489.7:p.Glu327Asp
ENST00000463684.1:c.*580G>C	ENSP00000476958.1:n.*580G>C
NM_001281463.1:c.981G>C , LRG_773t1:c.981G>C	NP_001268392.1:p.Glu327Asp
NM_006306.3:c.1047G>C , LRG_773t2:c.1047G>C	NP_006297.2:p.Glu349Asp
NM_006306.4:c.1047G>C MANE Select	NP_006297.2:p.Glu349Asp