Canonical Allele Identifier: CA413242505

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53407651C>G (hg19) ; chrX:g.53380730C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380730C>G , CM000685.2:g.53380730C>G	GRCh38
NC_000023.10:g.53407651C>G , CM000685.1:g.53407651C>G	GRCh37
NC_000023.9:g.53424376C>G	NCBI36
NG_006988.2:g.46941G>C , LRG_773:g.46941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3508G>C MANE Select	ENSP00000323421.3:p.Val1170Leu
ENST00000674590.1:c.2740G>C	ENSP00000502626.1:p.Val914Leu
ENST00000675504.1:c.3442G>C	ENSP00000502524.1:p.Val1148Leu
ENST00000322213.8:c.3508G>C	ENSP00000323421.3:p.Val1170Leu
ENST00000375340.10:c.3442G>C	ENSP00000364489.7:p.Val1148Leu
ENST00000470241.2:c.728G>C
NM_001281463.1:c.3442G>C , LRG_773t1:c.3442G>C	NP_001268392.1:p.Val1148Leu
NM_006306.3:c.3508G>C , LRG_773t2:c.3508G>C	NP_006297.2:p.Val1170Leu
NM_006306.4:c.3508G>C MANE Select	NP_006297.2:p.Val1170Leu